Variant report

Variant	rs34620502
Chromosome Location	chr6:161625978-161625979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161624885..161626939-chr6:161636311..161638359,2	K562	blood:
2	chr6:161625591..161627830-chr6:161643657..161645730,2	K562	blood:
3	chr6:161421006..161425101-chr6:161625177..161629259,4	K562	blood:
4	chr6:161625007..161627754-chr6:161650672..161652327,2	K562	blood:
5	chr6:161600837..161603020-chr6:161625885..161628074,2	K562	blood:
6	chr6:161623919..161626414-chr6:161687657..161690363,2	K562	blood:
7	chr6:161618660..161620548-chr6:161624919..161627802,2	MCF-7	breast:
8	chr6:161426329..161428066-chr6:161624454..161626493,2	K562	blood:

No data

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1040724	0.84[EUR][1000 genomes]
rs10499315	0.99[EUR][1000 genomes]
rs10499316	0.99[EUR][1000 genomes]
rs11961712	0.99[EUR][1000 genomes]
rs11970102	0.83[EUR][1000 genomes]
rs13192827	0.97[EUR][1000 genomes]
rs13193634	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194878	1.00[EUR][1000 genomes]
rs13212679	0.94[EUR][1000 genomes]
rs13215186	0.99[EUR][1000 genomes]
rs13219494	0.99[EUR][1000 genomes]
rs13220357	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16892284	0.96[EUR][1000 genomes]
rs16892303	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537799	0.84[EUR][1000 genomes]
rs17626731	0.99[EUR][1000 genomes]
rs35180185	0.99[EUR][1000 genomes]
rs35267977	1.00[EUR][1000 genomes]
rs35505620	0.99[EUR][1000 genomes]
rs35727114	0.94[EUR][1000 genomes]
rs36030076	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4314476	0.84[EUR][1000 genomes]
rs71565796	0.99[EUR][1000 genomes]
rs71565797	1.00[EUR][1000 genomes]
rs7744842	0.99[EUR][1000 genomes]
rs7747618	0.97[EUR][1000 genomes]
rs7751159	0.97[EUR][1000 genomes]
rs7756321	0.97[EUR][1000 genomes]
rs7758121	0.99[EUR][1000 genomes]
rs7767737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770491	0.97[EUR][1000 genomes]
rs7771961	0.99[EUR][1000 genomes]
rs9458149	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv5575	chr6:161611584-161643479	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:161602800-161626000	Weak transcription	Gastric	stomach
7	chr6:161607800-161629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:161607800-161644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:161608000-161636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:161610600-161626000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:161610600-161635800	Weak transcription	Ovary	ovary
12	chr6:161610600-161638000	Weak transcription	Aorta	Aorta
13	chr6:161611000-161637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:161615600-161626200	Weak transcription	Esophagus	oesophagus
15	chr6:161615800-161630000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:161616000-161627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:161619600-161626200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:161619600-161626600	Enhancers	Brain Angular Gyrus	brain
19	chr6:161619800-161632800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:161620000-161626000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:161621800-161626000	Weak transcription	Fetal Brain Female	brain
22	chr6:161622200-161626000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:161622200-161626400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:161622800-161626000	Weak transcription	Spleen	Spleen
25	chr6:161622800-161638200	Weak transcription	Primary B cells from cord blood	blood
26	chr6:161623200-161632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:161623200-161636400	Weak transcription	Primary T cells from cord blood	blood
28	chr6:161623400-161626000	Weak transcription	Left Ventricle	heart
29	chr6:161623600-161627400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:161623800-161628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:161624200-161626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:161624200-161630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:161625000-161626600	Enhancers	Fetal Heart	heart
34	chr6:161625200-161626000	Weak transcription	NH-A	brain
35	chr6:161625400-161626000	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:161625600-161626000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:161625600-161626400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:161625600-161626400	Enhancers	Fetal Brain Male	brain
39	chr6:161625600-161626600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:161625600-161626600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:161625600-161626600	Enhancers	Brain Germinal Matrix	brain
42	chr6:161625600-161626600	Enhancers	Brain Substantia Nigra	brain
43	chr6:161625600-161626600	Flanking Active TSS	K562	blood
44	chr6:161625800-161626000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:161625800-161626000	Active TSS	Brain Anterior Caudate	brain
46	chr6:161625800-161626000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr6:161625800-161626000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:161625800-161626000	Active TSS	Osteobl	bone
49	chr6:161625800-161626400	Enhancers	Placenta	Placenta
50	chr6:161625800-161626600	Enhancers	Cortex derived primary cultured neurospheres	brain

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