Variant report

Variant	rs371129891
Chromosome Location	chr6:147648665-147648666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147640420..147643294-chr6:147648350..147651490,3	K562	blood:
2	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:
3	chr6:147633394..147635714-chr6:147648364..147650085,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv886758	chr6:147644505-147679631	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv966699	chr6:147647301-147654269	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
7	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
8	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
9	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
11	chr6:147625800-147667400	Weak transcription	Gastric	stomach
12	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:147626000-147687000	Weak transcription	Lung	lung
14	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
16	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:147626400-147655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
23	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
24	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
26	chr6:147632000-147648800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:147633200-147650000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr6:147633800-147684400	Weak transcription	Ovary	ovary
29	chr6:147634800-147650000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:147637000-147686800	Weak transcription	A549	lung
31	chr6:147638400-147655200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:147639800-147649400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:147639800-147654600	Weak transcription	HUVEC	blood vessel
34	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:147640200-147649200	Weak transcription	NH-A	brain
36	chr6:147641800-147653000	Weak transcription	Esophagus	oesophagus
37	chr6:147642800-147650200	Strong transcription	K562	blood
38	chr6:147642800-147705000	Weak transcription	HepG2	liver
39	chr6:147643000-147650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:147643000-147650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:147643200-147650200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:147643600-147649000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:147643600-147651800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:147643600-147667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:147643800-147649200	Weak transcription	Fetal Lung	lung
46	chr6:147643800-147649600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr6:147643800-147649800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr6:147643800-147650200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:147643800-147680200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:147643800-147680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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