Variant report

Variant	rs3770076
Chromosome Location	chr2:86301899-86301900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86299304..86302856-chr2:86304036..86307072,4	MCF-7	breast:
2	chr2:86301883..86303571-chr2:86305517..86307251,2	K562	blood:
3	chr2:86299624..86302414-chr2:86309471..86311808,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10184159	1.00[ASN][1000 genomes]
rs12124	0.89[ASN][1000 genomes]
rs17026904	1.00[ASN][1000 genomes]
rs2278532	1.00[ASN][1000 genomes]
rs2278533	1.00[ASN][1000 genomes]
rs2278534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278537	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288116	1.00[ASN][1000 genomes]
rs3731822	0.89[ASN][1000 genomes]
rs3755005	0.96[ASN][1000 genomes]
rs3770063	0.88[ASN][1000 genomes]
rs3770064	0.88[ASN][1000 genomes]
rs3770083	1.00[ASN][1000 genomes]
rs3770084	1.00[ASN][1000 genomes]
rs3770085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770086	0.96[ASN][1000 genomes]
rs3770088	0.84[ASN][1000 genomes]
rs3770091	0.96[ASN][1000 genomes]
rs3821019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861544	0.81[ASN][1000 genomes]
rs57150140	1.00[ASN][1000 genomes]
rs57318396	0.81[ASN][1000 genomes]
rs57361751	0.89[ASN][1000 genomes]
rs57405155	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57963460	0.81[ASN][1000 genomes]
rs58002521	0.81[ASN][1000 genomes]
rs58009603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58026145	1.00[ASN][1000 genomes]
rs58810051	0.87[ASN][1000 genomes]
rs58861315	1.00[ASN][1000 genomes]
rs58913632	0.89[ASN][1000 genomes]
rs58919291	1.00[ASN][1000 genomes]
rs59053280	1.00[ASN][1000 genomes]
rs59185549	0.88[ASN][1000 genomes]
rs59649940	0.88[ASN][1000 genomes]
rs60329449	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60336356	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61056382	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61094144	0.82[ASN][1000 genomes]
rs61185790	1.00[ASN][1000 genomes]
rs61199255	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61254540	1.00[ASN][1000 genomes]
rs6755228	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:86286000-86302200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:86286200-86310400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:86286200-86311200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:86289800-86307200	Strong transcription	HepG2	liver
11	chr2:86290200-86310800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:86290600-86306200	Strong transcription	Fetal Intestine Large	intestine
13	chr2:86290800-86310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:86290800-86314600	Strong transcription	HMEC	breast
15	chr2:86290800-86318600	Strong transcription	K562	blood
16	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:86291000-86311200	Strong transcription	Fetal Brain Female	brain
18	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:86291800-86311400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:86294800-86309600	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr2:86295200-86323200	Strong transcription	Fetal Stomach	stomach
24	chr2:86295600-86306600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:86295800-86308400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:86295800-86308600	Strong transcription	Brain Germinal Matrix	brain
27	chr2:86295800-86308600	Strong transcription	NHEK	skin
28	chr2:86296000-86304400	Strong transcription	Primary T cells from cord blood	blood
29	chr2:86296000-86322400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:86296200-86302400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:86296200-86305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:86296200-86306400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:86296400-86305400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:86296400-86306000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:86296400-86306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:86296400-86307600	Weak transcription	Fetal Heart	heart
37	chr2:86296600-86303800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:86296600-86307200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:86296800-86306400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:86297000-86305200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:86297200-86303400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:86297200-86305000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:86297200-86307000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:86297400-86307400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:86297600-86306400	Strong transcription	Dnd41	blood
46	chr2:86298600-86307400	Weak transcription	Fetal Brain Male	brain
47	chr2:86299000-86306600	Strong transcription	Fetal Intestine Small	intestine
48	chr2:86299200-86302200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr2:86299200-86304800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:86299200-86310400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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