Variant report

Variant	rs4720640
Chromosome Location	chr7:5797090-5797091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5569817..5572389-chr7:5795762..5797317,2	K562	blood:
2	chr7:5792453..5794631-chr7:5795297..5797484,2	K562	blood:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10232762	0.90[ASN][1000 genomes]
rs10233615	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10241310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10259773	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10275238	0.88[ASN][1000 genomes]
rs1035331	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11531468	0.85[ASN][1000 genomes]
rs12531598	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1990836	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2009260	0.88[ASN][1000 genomes]
rs2287593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2287595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3735289	0.90[ASN][1000 genomes]
rs3801016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3801019	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3807580	0.86[JPT][hapmap]
rs3823683	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4720641	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4720642	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4724712	1.00[CHB][hapmap]
rs4724713	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4724718	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4724722	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61203027	0.86[ASN][1000 genomes]
rs6463506	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6463507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6944143	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6956960	0.90[ASN][1000 genomes]
rs6958272	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6959871	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs6960381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960897	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7777831	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7795879	0.85[JPT][hapmap]
rs7796461	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7800691	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7803308	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7804319	0.82[CEU][hapmap]
rs7806110	0.86[JPT][hapmap]
rs852257	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs852258	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs852265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs852266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs852267	0.90[ASN][1000 genomes]
rs852375	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852376	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs852402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs852409	0.85[ASN][1000 genomes]
rs852410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs852415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs852420	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852441	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852453	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852468	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs852489	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs852516	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs888582	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs888583	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9648578	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription 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 miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	nsv464293	chr7:5778796-5891221	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv464294	chr7:5778796-5891221	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv605987	chr7:5778796-5891221	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv2764038	chr7:5785999-5893967	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv464296	chr7:5792745-5850642	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv605988	chr7:5792745-5850642	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv471315	chr7:5792745-5891221	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv605989	chr7:5794220-5891221	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv1020103	chr7:5794220-5893955	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	esv3326694	chr7:5795518-5852599	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	esv3375120	chr7:5795699-5852633	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
3	chr7:5774200-5800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:5781400-5799600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:5781400-5816800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5783600-5798200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:5784000-5819600	Weak transcription	Fetal Heart	heart
8	chr7:5784200-5798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:5785200-5807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:5786000-5798000	Weak transcription	Fetal Brain Male	brain
11	chr7:5790400-5800600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:5790400-5804600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:5790800-5798200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:5790800-5798200	Weak transcription	Esophagus	oesophagus
15	chr7:5790800-5820400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:5791000-5797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:5791200-5798000	Weak transcription	Aorta	Aorta
18	chr7:5791400-5798200	Weak transcription	Fetal Brain Female	brain
19	chr7:5791400-5798200	Weak transcription	NHLF	lung
20	chr7:5792400-5797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:5792400-5798200	Weak transcription	Brain Germinal Matrix	brain
22	chr7:5792600-5797200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:5792600-5798000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:5792600-5798000	Weak transcription	Thymus	Thymus
25	chr7:5792600-5798200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:5792600-5798200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:5792600-5798200	Weak transcription	NH-A	brain
28	chr7:5792600-5798600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:5792600-5816600	Weak transcription	Right Ventricle	heart
30	chr7:5792800-5797200	Weak transcription	Osteobl	bone
31	chr7:5792800-5797400	Weak transcription	Fetal Stomach	stomach
32	chr7:5792800-5797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:5792800-5798000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:5792800-5798000	Weak transcription	HepG2	liver
35	chr7:5792800-5798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:5792800-5798200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:5792800-5798200	Weak transcription	Placenta	Placenta
38	chr7:5792800-5798200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:5792800-5798400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:5792800-5798400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:5792800-5798400	Weak transcription	Left Ventricle	heart
42	chr7:5792800-5798600	Weak transcription	Lung	lung
43	chr7:5792800-5799800	Weak transcription	Spleen	Spleen
44	chr7:5792800-5813400	Weak transcription	Small Intestine	intestine
45	chr7:5792800-5813600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:5792800-5820000	Weak transcription	Fetal Kidney	kidney
47	chr7:5792800-5820200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:5792800-5820200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:5792800-5820200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:5793800-5800200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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