Variant report

Variant	rs1316851
Chromosome Location	chr1:227136672-227136673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227086604..227088436-chr1:227136231..227138803,2	K562	blood:
2	chr1:227126068..227128951-chr1:227135416..227137496,3	MCF-7	breast:
3	chr1:227135011..227140362-chr1:227140387..227143822,8	K562	blood:
4	chr1:227135635..227138101-chr1:227138356..227140645,2	K562	blood:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12062453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094428	0.88[AFR][1000 genomes]
rs12562621	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs12562646	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs12565025	0.92[ASN][1000 genomes]
rs12565212	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs12567464	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12567790	0.84[ASN][1000 genomes]
rs12567972	0.81[ASN][1000 genomes]
rs12568014	0.84[ASN][1000 genomes]
rs16841298	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs16846716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16846733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16846735	0.92[ASN][1000 genomes]
rs16846738	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs16846751	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs16846772	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs16846779	0.84[ASN][1000 genomes]
rs16846780	0.84[ASN][1000 genomes]
rs16846783	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs16846790	0.81[ASN][1000 genomes]
rs16846792	0.81[ASN][1000 genomes]
rs16846798	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs16846808	0.84[ASN][1000 genomes]
rs16846811	0.84[ASN][1000 genomes]
rs2009053	1.00[ASN][1000 genomes]
rs2297411	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs2297417	0.84[ASN][1000 genomes]
rs3738728	0.81[ASN][1000 genomes]
rs3795450	0.84[ASN][1000 genomes]
rs3795452	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs41527149	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs4281295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4459073	1.00[ASN][1000 genomes]
rs4521963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56043893	0.84[ASN][1000 genomes]
rs60107850	0.92[ASN][1000 genomes]
rs944601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs944602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv549268	chr1:227124660-227149203	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227130200-227145600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:227130200-227146000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:227130400-227137000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:227130400-227137000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:227130400-227141000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:227130400-227142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:227130400-227142400	Weak transcription	Hela-S3	cervix
9	chr1:227130400-227154600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:227130800-227142400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:227131400-227153800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:227131800-227136800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:227131800-227147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:227132600-227137200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:227133000-227139000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:227133000-227146200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:227133200-227138800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:227133200-227149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:227133400-227141400	Weak transcription	K562	blood
21	chr1:227133600-227136800	Weak transcription	A549	lung
22	chr1:227133600-227142600	Weak transcription	Thymus	Thymus
23	chr1:227133600-227142600	Weak transcription	Spleen	Spleen
24	chr1:227134000-227141000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:227134000-227142400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:227134400-227136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:227134400-227137200	Enhancers	Pancreas	Pancrea
28	chr1:227134400-227138600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:227134400-227144800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:227134400-227151800	Weak transcription	Small Intestine	intestine
31	chr1:227134400-227153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:227134600-227136800	Weak transcription	Left Ventricle	heart
33	chr1:227134600-227136800	Weak transcription	Right Ventricle	heart
34	chr1:227134600-227138800	Weak transcription	Esophagus	oesophagus
35	chr1:227134600-227150200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:227134800-227137200	Weak transcription	Gastric	stomach
37	chr1:227134800-227137600	Weak transcription	Ovary	ovary
38	chr1:227134800-227138200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:227134800-227138800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:227134800-227142000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:227134800-227142400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:227134800-227145000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:227134800-227149000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:227134800-227150200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:227135000-227138600	Weak transcription	HSMMtube	muscle
46	chr1:227135000-227141000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:227135000-227150600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:227135200-227138400	Weak transcription	HepG2	liver
49	chr1:227135200-227138600	Weak transcription	Placenta	Placenta
50	chr1:227135200-227139000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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