Variant report

Variant	rs11730525
Chromosome Location	chr4:57780030-57780031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57772971..57776902-chr4:57777481..57784789,10	MCF-7	breast:
2	chr4:57778640..57781071-chr4:57785641..57787696,2	K562	blood:
3	chr4:57774412..57776864-chr4:57776976..57782053,6	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10008356	0.93[ASN][1000 genomes]
rs10030913	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10866440	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10866441	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1105434	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730321	0.90[ASN][1000 genomes]
rs11730476	0.90[ASN][1000 genomes]
rs11734953	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736192	0.88[ASN][1000 genomes]
rs11736869	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11736965	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11737689	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11933908	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941568	0.90[EUR][1000 genomes]
rs12500454	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12501224	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12501990	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12502076	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13108245	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13113802	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13116564	0.97[ASN][1000 genomes]
rs13119525	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13131605	0.85[ASN][1000 genomes]
rs13136432	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13146960	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13149162	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13150593	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13152476	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13353552	0.96[ASN][1000 genomes]
rs1877669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963666	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2002153	0.94[ASN][1000 genomes]
rs2014870	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2090962	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2228991	0.81[ASN][1000 genomes]
rs3000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34124552	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34448457	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35267092	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3796528	0.81[ASN][1000 genomes]
rs3806745	0.90[ASN][1000 genomes]
rs4276341	0.97[ASN][1000 genomes]
rs4864606	1.00[ASN][1000 genomes]
rs4864607	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864608	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4865156	0.90[ASN][1000 genomes]
rs4865157	0.93[ASN][1000 genomes]
rs4865158	0.92[ASN][1000 genomes]
rs4865159	0.94[ASN][1000 genomes]
rs4865160	0.94[ASN][1000 genomes]
rs55822707	0.98[ASN][1000 genomes]
rs56122758	0.91[ASN][1000 genomes]
rs62308110	0.90[ASN][1000 genomes]
rs62308111	0.90[ASN][1000 genomes]
rs62308135	1.00[ASN][1000 genomes]
rs62308136	1.00[ASN][1000 genomes]
rs62308137	0.99[ASN][1000 genomes]
rs62308155	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554393	0.93[ASN][1000 genomes]
rs6554394	0.93[ASN][1000 genomes]
rs6554397	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554398	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554399	0.81[ASN][1000 genomes]
rs6816950	0.90[ASN][1000 genomes]
rs6835102	0.88[ASN][1000 genomes]
rs6835108	0.88[ASN][1000 genomes]
rs6838948	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839845	0.88[ASN][1000 genomes]
rs6840805	0.90[ASN][1000 genomes]
rs6852110	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6854420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855212	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857005	0.88[ASN][1000 genomes]
rs6857226	0.88[ASN][1000 genomes]
rs6858216	0.90[ASN][1000 genomes]
rs71601656	0.84[ASN][1000 genomes]
rs729844	0.97[ASN][1000 genomes]
rs73242609	1.00[ASN][1000 genomes]
rs7666804	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667302	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667744	0.90[EUR][1000 genomes]
rs7680734	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7695970	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899630	0.90[EUR][1000 genomes]
rs899631	0.90[EUR][1000 genomes]
rs899632	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9684742	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:57776200-57781200	Enhancers	Adipose Nuclei	Adipose
3	chr4:57776400-57780800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:57776400-57784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
6	chr4:57776800-57780400	Genic enhancers	Fetal Thymus	thymus
7	chr4:57777000-57784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:57777000-57785400	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:57777000-57795800	Weak transcription	A549	lung
11	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
12	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:57777200-57780200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:57777200-57793400	Weak transcription	HMEC	breast
15	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
17	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:57777400-57780800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:57777400-57784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:57777400-57786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:57777600-57780200	Weak transcription	Psoas Muscle	Psoas
23	chr4:57777600-57780400	Genic enhancers	Thymus	Thymus
24	chr4:57777600-57780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:57777600-57782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:57777600-57783200	Weak transcription	Osteobl	bone
27	chr4:57777600-57784000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:57777600-57785800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
32	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
33	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:57777800-57780200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:57777800-57780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:57778000-57780200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:57778000-57781000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:57778000-57781800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:57778000-57781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:57778000-57785600	Strong transcription	Fetal Stomach	stomach
42	chr4:57778000-57791800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:57778000-57796000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:57778000-57796000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:57778000-57796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:57778200-57780200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:57778200-57780200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:57778200-57780600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:57778200-57781800	Weak transcription	Hela-S3	cervix

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