Variant report

Variant	rs2237333
Chromosome Location	chr7:26205980-26205981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26205068..26207055-chr7:26209247..26211585,2	K562	blood:
2	chr7:26205194..26207129-chr7:26211869..26214201,2	K562	blood:
3	chr7:26205548..26209207-chr7:26238110..26241194,3	MCF-7	breast:
4	chr7:26204327..26208311-chr7:26225894..26230203,6	K562	blood:
5	chr7:26205449..26207129-chr7:26212562..26214201,2	K562	blood:
6	chr7:26204181..26207055-chr7:26208718..26211585,2	K562	blood:
7	chr7:26205835..26207422-chr7:26220316..26222090,2	K562	blood:
8	chr7:26204554..26206378-chr7:26234760..26236409,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10499573	0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes]
rs10951126	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10951127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11978377	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533620	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12537093	0.94[EUR][1000 genomes]
rs12538280	0.86[MEX][hapmap]
rs12539124	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864241	0.94[EUR][1000 genomes]
rs2070601	1.00[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2237329	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237330	0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237332	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41374744	1.00[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4273	1.00[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58438239	0.81[EUR][1000 genomes]
rs58914793	0.81[EUR][1000 genomes]
rs6960012	0.88[EUR][1000 genomes]
rs9638832	0.81[EUR][1000 genomes]
rs9639531	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
5	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26196600-26222000	Weak transcription	Left Ventricle	heart
2	chr7:26196800-26206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:26197400-26210000	Weak transcription	A549	lung
4	chr7:26197600-26206400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:26198800-26222000	Weak transcription	Spleen	Spleen
6	chr7:26199200-26206000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:26199200-26206200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:26199400-26206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:26199400-26222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:26199800-26210400	Weak transcription	Pancreas	Pancrea
12	chr7:26200000-26206200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:26200800-26210800	Weak transcription	HepG2	liver
15	chr7:26201200-26209800	Weak transcription	Psoas Muscle	Psoas
16	chr7:26205400-26206600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:26205400-26206800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:26205400-26207000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:26205400-26207200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:26205400-26208800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:26205600-26206200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:26205600-26206400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:26205600-26206400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:26205600-26206400	Enhancers	GM12878-XiMat	blood
25	chr7:26205600-26206600	Enhancers	Duodenum Mucosa	Duodenum
26	chr7:26205600-26206600	Enhancers	K562	blood
27	chr7:26205600-26206800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:26205600-26206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:26205600-26206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:26205600-26207000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:26205600-26207600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:26205600-26207800	Enhancers	Fetal Intestine Small	intestine
33	chr7:26205800-26206000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:26205800-26206000	Enhancers	NHEK	skin
35	chr7:26205800-26206600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:26205800-26206600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:26205800-26206600	Enhancers	Esophagus	oesophagus
38	chr7:26205800-26206600	Enhancers	Right Atrium	heart
39	chr7:26205800-26206600	Enhancers	Small Intestine	intestine
40	chr7:26205800-26207000	Enhancers	Gastric	stomach
41	chr7:26205800-26207200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:26205800-26207200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:26205800-26207200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:26205800-26207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:26205800-26207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:26205800-26207200	Enhancers	Placenta	Placenta
47	chr7:26205800-26207400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:26205800-26207400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:26205800-26207600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr7:26205800-26207800	Enhancers	Primary T cells fromperipheralblood	blood

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