Variant report

Variant	rs11933908
Chromosome Location	chr4:57778969-57778970
allele	C/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:
4	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000084092	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008356	0.93[ASN][1000 genomes]
rs10030913	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10866440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10866441	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1105434	0.80[AFR][1000 genomes];0.94[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]
rs11730525	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734953	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736192	0.88[ASN][1000 genomes]
rs11736869	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11736965	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11737689	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11941568	0.90[EUR][1000 genomes]
rs12500454	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12501224	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12501990	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12502076	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13108245	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13113802	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13116564	0.97[ASN][1000 genomes]
rs13119525	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13131605	0.85[ASN][1000 genomes]
rs13136432	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13146960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13149162	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13150593	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13152476	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13353552	0.96[ASN][1000 genomes]
rs1877669	0.80[AFR][1000 genomes];0.97[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	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2228991	0.81[ASN][1000 genomes]
rs3000	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34124552	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34448457	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35267092	0.85[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	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864608	0.96[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	0.83[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554398	0.97[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[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	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6854420	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855212	0.90[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	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667302	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667744	0.90[EUR][1000 genomes]
rs7680734	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7695970	0.94[AFR][1000 genomes];1.00[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	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9684742	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr4:57776800-57779000	Enhancers	Pancreas	Pancrea
7	chr4:57776800-57779400	Enhancers	Lung	lung
8	chr4:57776800-57780400	Genic enhancers	Fetal Thymus	thymus
9	chr4:57777000-57779400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:57777000-57779800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:57777000-57784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:57777000-57785400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:57777000-57795800	Weak transcription	A549	lung
15	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
16	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:57777200-57779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:57777200-57780200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:57777200-57793400	Weak transcription	HMEC	breast
20	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
22	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:57777400-57780000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:57777400-57780800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:57777400-57784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57777400-57786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:57777600-57779200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:57777600-57779600	Weak transcription	Liver	Liver
30	chr4:57777600-57779600	Weak transcription	Spleen	Spleen
31	chr4:57777600-57780200	Weak transcription	Psoas Muscle	Psoas
32	chr4:57777600-57780400	Genic enhancers	Thymus	Thymus
33	chr4:57777600-57780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:57777600-57782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:57777600-57783200	Weak transcription	Osteobl	bone
36	chr4:57777600-57784000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:57777600-57785800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
39	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
41	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
42	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:57777800-57780200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:57777800-57780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:57778000-57779400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:57778000-57779400	Weak transcription	NHEK	skin
48	chr4:57778000-57779600	Weak transcription	Fetal Lung	lung
49	chr4:57778000-57779800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:57778000-57779800	Weak transcription	Gastric	stomach

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