Variant report

Variant	rs7623618
Chromosome Location	chr3:157857462-157857463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:157849729..157851539-chr3:157855010..157858229,4	K562	blood:
2	chr3:157856122..157858271-chr3:157860097..157863022,2	K562	blood:
3	chr3:157838685..157841210-chr3:157855039..157857815,2	K562	blood:
4	chr3:157849729..157852576-chr3:157856575..157858121,2	K562	blood:

Variant related genes	Relation type
ENSG00000174891	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11706229	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13060100	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13065148	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13072413	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13086348	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1581412	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1589526	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1589528	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1608968	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1609523	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1609524	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1610269	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1618377	0.81[EUR][1000 genomes]
rs1624094	0.81[EUR][1000 genomes]
rs1724727	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1724728	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724729	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1730043	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2682397	0.83[EUR][1000 genomes]
rs4261833	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4271876	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4318510	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4320039	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4320040	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4336069	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4396839	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4410410	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4558712	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4561782	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4679821	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4679823	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4680417	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4680418	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6441175	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441176	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6441177	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6762154	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6765767	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6768496	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6776109	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6777853	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6777968	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6786057	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6787072	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6802443	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6803342	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7617503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7623107	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7628936	0.84[AMR][1000 genomes]
rs7629021	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7629341	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7629432	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7629518	0.81[AMR][1000 genomes]
rs7642751	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7645383	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7645475	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7648169	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7651288	0.83[AMR][1000 genomes]
rs827143	0.81[EUR][1000 genomes]
rs827150	0.83[EUR][1000 genomes]
rs827151	0.83[EUR][1000 genomes]
rs827156	0.83[EUR][1000 genomes]
rs827158	0.83[EUR][1000 genomes]
rs827159	0.83[EUR][1000 genomes]
rs827161	0.83[EUR][1000 genomes]
rs827803	0.83[EUR][1000 genomes]
rs827804	0.83[EUR][1000 genomes]
rs852110	0.81[EUR][1000 genomes]
rs864859	0.83[EUR][1000 genomes]
rs9290022	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9811346	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9819408	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9819411	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9840667	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9846988	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9848977	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9852745	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9855534	0.87[AMR][1000 genomes];0.84[EUR][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	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv829768	chr3:157832878-158012070	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157829200-157861400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:157830000-157866400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:157837600-157877600	Weak transcription	Fetal Heart	heart
4	chr3:157838800-157862600	Weak transcription	Pancreas	Pancrea
5	chr3:157842800-157858000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:157842800-157858200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:157843000-157868600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:157843600-157866200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:157843600-157886800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:157845800-157857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:157846000-157860800	Weak transcription	Small Intestine	intestine
12	chr3:157846000-157868400	Weak transcription	Lung	lung
13	chr3:157846000-157869200	Weak transcription	Esophagus	oesophagus
14	chr3:157846200-157857600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:157846200-157857800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:157846200-157859200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:157846200-157861800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:157846200-157862800	Weak transcription	Fetal Brain Female	brain
19	chr3:157846200-157869200	Weak transcription	Psoas Muscle	Psoas
20	chr3:157846200-157869200	Weak transcription	NHEK	skin
21	chr3:157846200-157872000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:157846200-157875200	Weak transcription	Gastric	stomach
23	chr3:157846200-157893400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:157846200-157893600	Weak transcription	Aorta	Aorta
25	chr3:157846600-157858000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:157846600-157867400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:157846600-157878600	Weak transcription	HSMM	muscle
28	chr3:157846800-157857600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:157846800-157860200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:157846800-157860200	Weak transcription	Left Ventricle	heart
31	chr3:157846800-157866200	Weak transcription	Brain Angular Gyrus	brain
32	chr3:157846800-157874000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:157846800-157874600	Weak transcription	Fetal Lung	lung
34	chr3:157846800-157876800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:157846800-157876800	Weak transcription	K562	blood
36	chr3:157846800-157894400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:157847000-157861600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:157847000-157861800	Weak transcription	Fetal Intestine Large	intestine
39	chr3:157847000-157862200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:157847000-157868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:157847000-157873200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:157847200-157876800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:157847800-157869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:157848000-157863800	Weak transcription	Liver	Liver
45	chr3:157848000-157869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:157848000-157888200	Weak transcription	Thymus	Thymus
47	chr3:157848200-157857800	Weak transcription	Fetal Thymus	thymus
48	chr3:157848200-157862000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:157848200-157867200	Weak transcription	Primary B cells from cord blood	blood
50	chr3:157848200-157876200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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