Variant report

Variant	rs9382256
Chromosome Location	chr6:53781660-53781661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr6:53781544-53782067	GM19099	blood:	n/a	n/a
2	EBF1	chr6:53781549-53782123	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53656949..53662173-chr6:53781368..53784554,5	MCF-7	breast:

Variant related genes	Relation type
LRRC1	TF binding region
ENSG00000137269	Chromatin interaction
ENSG00000228614	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1076701	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1076702	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12526194	0.84[AMR][1000 genomes]
rs2073020	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2076495	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2294789	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294790	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294791	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3777661	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4455653	0.97[ASN][1000 genomes]
rs6903399	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9349685	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9357776	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9357778	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9370233	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9370241	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9370244	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9370246	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9382238	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382241	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9382243	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9382244	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9382246	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9382248	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9382252	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382253	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9382254	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9382257	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9395878	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9395881	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53752800-53782000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:53756000-53781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:53759200-53787600	Weak transcription	Spleen	Spleen
4	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
5	chr6:53759400-53786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:53759600-53789800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:53760400-53789400	Weak transcription	Stomach Mucosa	stomach
8	chr6:53760400-53791200	Weak transcription	Hela-S3	cervix
9	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:53761000-53782000	Weak transcription	Fetal Kidney	kidney
11	chr6:53761000-53782800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:53761000-53785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:53761400-53787400	Weak transcription	HMEC	breast
14	chr6:53761400-53791200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:53761600-53790800	Weak transcription	Fetal Heart	heart
16	chr6:53761800-53786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:53762000-53791200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:53762000-53791600	Weak transcription	Fetal Lung	lung
19	chr6:53762200-53786800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:53764400-53784600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:53768600-53785000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:53769000-53785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:53769200-53790400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:53769600-53785200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:53769800-53784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:53769800-53784400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:53770000-53781800	Weak transcription	HSMM	muscle
29	chr6:53770000-53782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:53770600-53787400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:53771200-53785000	Weak transcription	Left Ventricle	heart
33	chr6:53772000-53784200	Weak transcription	Colonic Mucosa	Colon
34	chr6:53772000-53784400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:53772000-53787600	Weak transcription	Pancreas	Pancrea
36	chr6:53772000-53803000	Weak transcription	Lung	lung
37	chr6:53772800-53783800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:53776000-53786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:53776000-53790600	Weak transcription	Brain Germinal Matrix	brain
40	chr6:53776200-53786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:53776400-53786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:53776600-53785200	Weak transcription	Ovary	ovary
43	chr6:53776600-53789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:53776800-53791000	Weak transcription	HUVEC	blood vessel
45	chr6:53777600-53790600	Strong transcription	Fetal Thymus	thymus
46	chr6:53778000-53787800	Strong transcription	Dnd41	blood
47	chr6:53778000-53791800	Weak transcription	Small Intestine	intestine
48	chr6:53779200-53783800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:53779200-53783800	Weak transcription	NHEK	skin
50	chr6:53779200-53787600	Weak transcription	Aorta	Aorta

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