Variant report

Variant	rs2997392
Chromosome Location	chr6:80817501-80817502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80816628..80819022-chr6:80824130..80826174,2	K562	blood:
2	chr6:80815077..80817880-chr6:80835991..80839240,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083123	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10943700	1.00[EUR][1000 genomes]
rs151643	1.00[EUR][1000 genomes]
rs151647	1.00[EUR][1000 genomes]
rs151659	1.00[EUR][1000 genomes]
rs16891543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16891547	1.00[EUR][1000 genomes]
rs187066	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs192130	1.00[EUR][1000 genomes]
rs2182852	1.00[EUR][1000 genomes]
rs239499	1.00[EUR][1000 genomes]
rs239503	1.00[EUR][1000 genomes]
rs239510	1.00[EUR][1000 genomes]
rs239513	1.00[EUR][1000 genomes]
rs239557	1.00[CEU][hapmap]
rs239559	1.00[EUR][1000 genomes]
rs239561	1.00[EUR][1000 genomes]
rs239565	1.00[EUR][1000 genomes]
rs240215	1.00[EUR][1000 genomes]
rs240223	1.00[EUR][1000 genomes]
rs240227	1.00[EUR][1000 genomes]
rs2490225	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2490229	1.00[EUR][1000 genomes]
rs2490231	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2490233	1.00[EUR][1000 genomes]
rs2490237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490238	1.00[EUR][1000 genomes]
rs2490242	1.00[EUR][1000 genomes]
rs2490246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505934	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2505936	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505941	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2505943	1.00[EUR][1000 genomes]
rs2505947	1.00[EUR][1000 genomes]
rs2769338	1.00[EUR][1000 genomes]
rs2997393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935289	1.00[EUR][1000 genomes]
rs58621476	1.00[EUR][1000 genomes]
rs58678861	1.00[EUR][1000 genomes]
rs60398437	1.00[EUR][1000 genomes]
rs6454141	1.00[EUR][1000 genomes]
rs6912898	1.00[EUR][1000 genomes]
rs6925435	1.00[EUR][1000 genomes]
rs7748996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448918	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	esv3398521	chr6:80816133-80818281	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80815600-80817800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:80815600-80817800	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:80815600-80819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:80815800-80817600	Active TSS	Aorta	Aorta
5	chr6:80815800-80817800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:80815800-80817800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:80815800-80817800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:80815800-80817800	Active TSS	GM12878-XiMat	blood
9	chr6:80815800-80818000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:80816600-80817800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:80816800-80836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:80817000-80817600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:80817000-80817600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:80817000-80817600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:80817000-80817600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:80817000-80817600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:80817000-80817600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:80817000-80817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:80817000-80817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:80817000-80817600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:80817000-80817600	Enhancers	Colonic Mucosa	Colon
22	chr6:80817000-80817600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:80817000-80817600	Enhancers	Fetal Brain Female	brain
24	chr6:80817000-80817600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:80817000-80817600	Enhancers	Fetal Muscle Leg	muscle
26	chr6:80817000-80817600	Enhancers	Placenta	Placenta
27	chr6:80817000-80817600	Enhancers	Fetal Stomach	stomach
28	chr6:80817000-80817600	Enhancers	Gastric	stomach
29	chr6:80817000-80817600	Enhancers	Left Ventricle	heart
30	chr6:80817000-80817600	Enhancers	Lung	lung
31	chr6:80817000-80817600	Active TSS	HSMM	muscle
32	chr6:80817000-80817600	Enhancers	HUVEC	blood vessel
33	chr6:80817000-80817800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:80817000-80817800	Enhancers	Primary T cells from cord blood	blood
35	chr6:80817000-80817800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:80817000-80817800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:80817000-80817800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:80817000-80817800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:80817000-80817800	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:80817000-80817800	Enhancers	Thymus	Thymus
41	chr6:80817000-80817800	Enhancers	NH-A	brain
42	chr6:80817000-80817800	Enhancers	NHEK	skin
43	chr6:80817000-80818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:80817000-80818000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:80817000-80818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:80817000-80818000	Enhancers	Fetal Intestine Small	intestine
47	chr6:80817000-80822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:80817000-80822400	Weak transcription	Pancreas	Pancrea
49	chr6:80817000-80838200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:80817000-80852800	Weak transcription	Psoas Muscle	Psoas

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