Variant report

Variant	rs57481919
Chromosome Location	chr6:28217838-28217839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28217166..28222171-chr6:28233596..28237356,7	MCF-7	breast:
2	chr6:28107426..28110018-chr6:28217244..28218841,2	MCF-7	breast:
3	chr6:28217257..28219975-chr6:28319678..28321725,2	K562	blood:
4	chr6:28191711..28195552-chr6:28216768..28221883,5	MCF-7	breast:
5	chr6:28207533..28210874-chr6:28216267..28219988,4	MCF-7	breast:
6	chr6:28104411..28106188-chr6:28216933..28220029,3	MCF-7	breast:
7	chr6:28217084..28219662-chr6:28271676..28274035,2	K562	blood:

Variant related genes	Relation type
ENSG00000261839	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000198315	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1150682	1.00[EUR][1000 genomes]
rs1225593	1.00[EUR][1000 genomes]
rs1619221	1.00[EUR][1000 genomes]
rs175953	1.00[EUR][1000 genomes]
rs175955	1.00[EUR][1000 genomes]
rs1770132	1.00[EUR][1000 genomes]
rs183926	1.00[EUR][1000 genomes]
rs203867	1.00[EUR][1000 genomes]
rs203874	1.00[EUR][1000 genomes]
rs2622318	1.00[EUR][1000 genomes]
rs34223404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55826226	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57672617	1.00[EUR][1000 genomes]
rs60005089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60554811	1.00[EUR][1000 genomes]
rs73740585	1.00[EUR][1000 genomes]
rs73740597	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740600	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740605	1.00[EUR][1000 genomes]
rs73740628	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740636	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73742514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742531	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28193800-28218400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:28193800-28218400	Weak transcription	Stomach Mucosa	stomach
3	chr6:28201600-28219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:28203000-28218400	Weak transcription	HUVEC	blood vessel
5	chr6:28211600-28218000	Strong transcription	Fetal Muscle Leg	muscle
6	chr6:28212800-28218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:28213600-28218000	Weak transcription	Pancreas	Pancrea
8	chr6:28213600-28218400	Weak transcription	Fetal Heart	heart
9	chr6:28213600-28218400	Weak transcription	NHEK	skin
10	chr6:28213800-28218200	Weak transcription	HMEC	breast
11	chr6:28214000-28218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:28214200-28218400	Weak transcription	Small Intestine	intestine
13	chr6:28214200-28218400	Weak transcription	Hela-S3	cervix
14	chr6:28214400-28218400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:28214400-28219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:28214600-28218000	Weak transcription	Psoas Muscle	Psoas
17	chr6:28214600-28218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:28214600-28219200	Weak transcription	Gastric	stomach
19	chr6:28214600-28219400	Weak transcription	Aorta	Aorta
20	chr6:28214800-28218400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:28214800-28218400	Weak transcription	Spleen	Spleen
22	chr6:28214800-28218400	Weak transcription	A549	lung
23	chr6:28214800-28218400	Weak transcription	NHDF-Ad	bronchial
24	chr6:28215000-28218000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:28215000-28218200	Weak transcription	Fetal Kidney	kidney
26	chr6:28215000-28218400	Weak transcription	HSMM	muscle
27	chr6:28215000-28218400	Weak transcription	Osteobl	bone
28	chr6:28215000-28218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:28215000-28218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:28215000-28218600	Weak transcription	Colonic Mucosa	Colon
31	chr6:28215000-28218600	Weak transcription	Right Ventricle	heart
32	chr6:28215200-28218400	Weak transcription	K562	blood
33	chr6:28215400-28218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:28215600-28218400	Weak transcription	Brain Angular Gyrus	brain
35	chr6:28215600-28218400	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:28215600-28218400	Weak transcription	NH-A	brain
37	chr6:28215800-28218200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:28215800-28218600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:28216000-28218400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:28216000-28218400	Weak transcription	Fetal Brain Female	brain
41	chr6:28216000-28219200	Weak transcription	Lung	lung
42	chr6:28216200-28218200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:28216200-28218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:28216200-28218200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:28216200-28218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:28216200-28218400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:28216200-28218400	Weak transcription	Brain Anterior Caudate	brain
48	chr6:28216200-28218400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:28216200-28218400	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:28216200-28218400	Weak transcription	Brain Inferior Temporal Lobe	brain

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