Variant report

Variant	rs60227349
Chromosome Location	chr6:38561212-38561213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12525759	0.88[AMR][1000 genomes]
rs13194484	1.00[AFR][1000 genomes]
rs16890826	0.88[AMR][1000 genomes]
rs16890840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2748160	1.00[AFR][1000 genomes]
rs58177962	0.85[AMR][1000 genomes]
rs58458015	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62396374	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62396375	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62396376	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62396378	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62396379	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62396381	1.00[AFR][1000 genomes]
rs62396382	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62396459	0.84[AMR][1000 genomes]
rs62399160	0.84[AMR][1000 genomes]
rs62399161	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72849175	1.00[AFR][1000 genomes]
rs72852702	1.00[AFR][1000 genomes]
rs72855194	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38523000-38571600	Weak transcription	HSMMtube	muscle
2	chr6:38534400-38561600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:38535800-38564000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:38535800-38578200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:38536800-38566400	Weak transcription	Pancreas	Pancrea
6	chr6:38538000-38566800	Weak transcription	Esophagus	oesophagus
7	chr6:38538600-38561800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:38538600-38562000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:38539800-38562800	Weak transcription	Fetal Thymus	thymus
10	chr6:38540400-38561600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:38540400-38567800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:38540400-38569200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:38541000-38565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:38541400-38568600	Weak transcription	Spleen	Spleen
15	chr6:38541600-38567000	Weak transcription	Small Intestine	intestine
16	chr6:38542000-38563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:38545000-38561400	Weak transcription	Psoas Muscle	Psoas
18	chr6:38545400-38566000	Weak transcription	Colonic Mucosa	Colon
19	chr6:38546200-38563800	Weak transcription	Gastric	stomach
20	chr6:38547400-38565400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:38547400-38566600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:38548200-38561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:38548200-38563800	Weak transcription	Brain Substantia Nigra	brain
24	chr6:38548200-38570800	Weak transcription	Fetal Kidney	kidney
25	chr6:38549000-38570800	Weak transcription	Fetal Intestine Small	intestine
26	chr6:38553400-38562200	Strong transcription	Primary T cells from cord blood	blood
27	chr6:38555000-38565800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:38556000-38563800	Weak transcription	Fetal Heart	heart
29	chr6:38556000-38580400	Weak transcription	Ovary	ovary
30	chr6:38556200-38567400	Weak transcription	Lung	lung
31	chr6:38556800-38563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:38557000-38562400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:38557200-38562000	Weak transcription	HUVEC	blood vessel
34	chr6:38557400-38561600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:38557400-38571800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:38557400-38571800	Weak transcription	NHDF-Ad	bronchial
37	chr6:38557400-38578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:38557800-38562800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:38557800-38571600	Weak transcription	HMEC	breast
40	chr6:38557800-38572000	Weak transcription	NHLF	lung
41	chr6:38558200-38562400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:38558200-38564000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:38558200-38565000	Weak transcription	Fetal Brain Male	brain
44	chr6:38558400-38562200	Strong transcription	Adipose Nuclei	Adipose
45	chr6:38558400-38566000	Strong transcription	Primary B cells from cord blood	blood
46	chr6:38558600-38562200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:38558600-38565800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:38558800-38562200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:38558800-38562400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:38558800-38562600	Strong transcription	Duodenum Mucosa	Duodenum

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