Variant report

Variant	rs2982239
Chromosome Location	chr6:144641358-144641359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2502634	0.90[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[ASN][1000 genomes]
rs2502640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4895638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:144616400-144648000	Weak transcription	NHEK	skin
3	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144624400-144648000	Weak transcription	HMEC	breast
6	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
7	chr6:144627600-144643400	Weak transcription	NH-A	brain
8	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:144629400-144641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:144631600-144641600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:144633000-144641600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:144633000-144641800	Weak transcription	HSMM	muscle
15	chr6:144634800-144645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:144635000-144651000	Weak transcription	Small Intestine	intestine
17	chr6:144635600-144641800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:144635600-144643000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:144635600-144650800	Weak transcription	Aorta	Aorta
20	chr6:144636000-144641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:144636400-144641600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:144636400-144642200	Enhancers	Osteobl	bone
24	chr6:144636600-144642200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:144636600-144648000	Weak transcription	Brain Anterior Caudate	brain
26	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:144636800-144650800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
30	chr6:144637000-144641600	Weak transcription	HSMMtube	muscle
31	chr6:144637000-144642400	Weak transcription	Brain Angular Gyrus	brain
32	chr6:144637000-144643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:144637000-144647600	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:144637000-144651800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:144637200-144642000	Weak transcription	Spleen	Spleen
36	chr6:144637200-144647800	Weak transcription	Left Ventricle	heart
37	chr6:144637200-144647800	Weak transcription	Right Atrium	heart
38	chr6:144637200-144648000	Weak transcription	Psoas Muscle	Psoas
39	chr6:144637400-144641400	Weak transcription	Ovary	ovary
40	chr6:144637400-144641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:144637400-144643200	Weak transcription	Gastric	stomach
42	chr6:144637400-144645600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:144637400-144647800	Weak transcription	Fetal Stomach	stomach
44	chr6:144637400-144648400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:144637600-144643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:144637600-144644800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:144637600-144647800	Weak transcription	Right Ventricle	heart
48	chr6:144638000-144643400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:144638200-144641800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:144638400-144641800	Weak transcription	A549	lung

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