Variant report

Variant	rs1317212
Chromosome Location	chr10:5673327-5673328
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr10:5673180-5673878	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5666540..5670442-chr10:5670663..5674489,4	MCF-7	breast:
2	chr10:5488416..5489958-chr10:5672026..5673890,2	K562	blood:
3	chr10:5673035..5675364-chr10:5725053..5728516,4	MCF-7	breast:
4	chr10:5672014..5674575-chr10:5854060..5856479,2	MCF-7	breast:
5	chr10:5672469..5675172-chr10:5707074..5708649,2	K562	blood:
6	chr10:5490412..5494484-chr10:5671692..5675965,4	K562	blood:
7	chr10:5486822..5491535-chr10:5671952..5676641,6	MCF-7	breast:
8	chr10:5488364..5489916-chr10:5672026..5673861,2	K562	blood:
9	chr10:5664649..5667001-chr10:5672952..5674907,2	K562	blood:
10	chr10:5673292..5677112-chr10:5724421..5727333,4	K562	blood:

No data

Variant related genes	Relation type
RN7SL445P	TF binding region
ENSG00000108021	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11256322	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap]
rs11256474	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs1573	0.93[ASW][hapmap];1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs2386648	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[YRI][hapmap]
rs2386649	0.93[ASW][hapmap];1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.81[YRI][hapmap]
rs2386655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2386659	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2386660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs4414128	0.85[MEX][hapmap]
rs4601655	0.93[ASW][hapmap];1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs7895921	0.94[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv470917	chr10:5654167-5715401	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv818742	chr10:5654167-5715401	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1036492	chr10:5656962-5711147	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv540473	chr10:5656962-5711147	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv1036253	chr10:5657162-5711008	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv540474	chr10:5657162-5711008	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv1040422	chr10:5665458-5714630	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv1043251	chr10:5665458-5716555	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv1052519	chr10:5665458-5717125	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1038690	chr10:5665458-5720424	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv1039650	chr10:5665458-5720512	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv1041684	chr10:5665458-5722299	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
28	esv2760149	chr10:5665458-5724382	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	nsv1054909	chr10:5665458-5724382	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	nsv1049620	chr10:5665458-5725208	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	nsv442170	chr10:5665462-5717127	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	esv2753700	chr10:5665774-5716555	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	esv34623	chr10:5665774-5716858	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
34	esv35082	chr10:5665774-5716858	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
35	esv2754101	chr10:5665774-5716858	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
36	esv2755272	chr10:5665774-5716858	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
37	nsv1038750	chr10:5668208-5711008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
38	nsv540475	chr10:5668208-5711008	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5658000-5673600	Weak transcription	Left Ventricle	heart
2	chr10:5665200-5681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:5665400-5673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:5665400-5680400	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:5665400-5680600	Weak transcription	Fetal Brain Female	brain
6	chr10:5665600-5673400	Weak transcription	HMEC	breast
7	chr10:5665600-5680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:5665600-5680400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:5665600-5680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:5665600-5681800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:5665600-5698600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:5667200-5674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5668800-5680400	Weak transcription	Gastric	stomach
14	chr10:5669000-5676400	Enhancers	Pancreas	Pancrea
15	chr10:5669400-5674200	Weak transcription	Spleen	Spleen
16	chr10:5670200-5681400	Enhancers	Fetal Thymus	thymus
17	chr10:5670800-5674000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:5671000-5673400	Weak transcription	Colonic Mucosa	Colon
19	chr10:5671000-5673800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:5671000-5674000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:5671000-5674000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:5671000-5674200	Weak transcription	Aorta	Aorta
23	chr10:5671000-5674400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:5671000-5680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:5671000-5680800	Weak transcription	Psoas Muscle	Psoas
26	chr10:5671000-5681000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:5671200-5674000	Weak transcription	Fetal Kidney	kidney
28	chr10:5671200-5674200	Weak transcription	Fetal Lung	lung
29	chr10:5671200-5679800	Weak transcription	Brain Anterior Caudate	brain
30	chr10:5671200-5680400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:5671400-5673600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:5671400-5673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:5671400-5674200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:5671400-5680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:5671400-5680400	Weak transcription	Adipose Nuclei	Adipose
36	chr10:5671400-5680800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:5671400-5680800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr10:5671400-5681400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr10:5671400-5683800	Weak transcription	HUVEC	blood vessel
40	chr10:5671600-5673400	Weak transcription	Liver	Liver
41	chr10:5671600-5673400	Weak transcription	A549	lung
42	chr10:5671600-5673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr10:5671600-5674200	Weak transcription	NHDF-Ad	bronchial
44	chr10:5671600-5674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr10:5671600-5679800	Weak transcription	Ovary	ovary
46	chr10:5671600-5680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:5671600-5680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:5671600-5680800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr10:5671600-5681600	Weak transcription	Osteobl	bone
50	chr10:5671600-5689000	Weak transcription	Hela-S3	cervix

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