Variant report

Variant	rs2989591
Chromosome Location	chr6:37437365-37437366
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	chr6:37427968..37429598-chr6:37435219..37438216,2	K562	blood:
2	chr6:37400814..37402924-chr6:37435282..37437771,3	K562	blood:

Variant related genes	Relation type
ENSG00000137200	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs195374	1.00[EUR][1000 genomes]
rs195375	1.00[EUR][1000 genomes]
rs195377	1.00[EUR][1000 genomes]
rs195428	1.00[EUR][1000 genomes]
rs195430	1.00[EUR][1000 genomes]
rs195431	1.00[EUR][1000 genomes]
rs195433	1.00[EUR][1000 genomes]
rs195439	1.00[EUR][1000 genomes]
rs195441	1.00[EUR][1000 genomes]
rs195442	1.00[EUR][1000 genomes]
rs2646928	1.00[EUR][1000 genomes]
rs2797791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797792	1.00[EUR][1000 genomes]
rs449637	1.00[EUR][1000 genomes]
rs56068882	1.00[EUR][1000 genomes]
rs58839558	0.87[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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr6:37424600-37451600	Strong transcription	Fetal Thymus	thymus
2	chr6:37425600-37440200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:37427400-37442800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:37428800-37440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:37429000-37439800	Weak transcription	Fetal Heart	heart
6	chr6:37430000-37439600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:37430400-37438600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:37430800-37439000	Weak transcription	Fetal Kidney	kidney
9	chr6:37430800-37442200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:37431000-37438600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:37431000-37438600	Weak transcription	HUVEC	blood vessel
12	chr6:37431000-37438800	Weak transcription	HMEC	breast
13	chr6:37431000-37439000	Weak transcription	HSMMtube	muscle
14	chr6:37431000-37440000	Weak transcription	Fetal Brain Male	brain
15	chr6:37431200-37437600	Weak transcription	HSMM	muscle
16	chr6:37431200-37438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:37431200-37438600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:37431200-37438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:37431200-37439000	Weak transcription	Small Intestine	intestine
20	chr6:37431200-37439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:37431200-37440000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:37431400-37437600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:37431400-37438200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:37431400-37438400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:37431400-37438800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:37431400-37439400	Weak transcription	NHLF	lung
27	chr6:37431600-37438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:37431600-37438400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:37431600-37438800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:37431600-37439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:37431600-37439200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:37431600-37439600	Weak transcription	A549	lung
33	chr6:37431600-37440000	Weak transcription	NHDF-Ad	bronchial
34	chr6:37431600-37440400	Weak transcription	Psoas Muscle	Psoas
35	chr6:37431800-37438200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:37431800-37438400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:37431800-37438400	Weak transcription	Aorta	Aorta
38	chr6:37431800-37438400	Weak transcription	Colonic Mucosa	Colon
39	chr6:37431800-37438400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:37431800-37438400	Weak transcription	Osteobl	bone
41	chr6:37431800-37438600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:37431800-37438600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:37431800-37438600	Weak transcription	Left Ventricle	heart
44	chr6:37431800-37438600	Weak transcription	Lung	lung
45	chr6:37431800-37438600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:37431800-37439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:37431800-37439000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:37431800-37439000	Weak transcription	Brain Angular Gyrus	brain
49	chr6:37431800-37439000	Weak transcription	Gastric	stomach
50	chr6:37431800-37439000	Weak transcription	Right Ventricle	heart

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