Variant report

Variant	rs1814130
Chromosome Location	chr6:38032948-38032949
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	chr6:38025431..38030854-chr6:38032452..38035354,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12194872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12196555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12206687	0.95[ASN][1000 genomes]
rs1390735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852542	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	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
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:38020400-38046200	Weak transcription	Stomach Mucosa	stomach
3	chr6:38023000-38054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:38023200-38052800	Weak transcription	Gastric	stomach
5	chr6:38024400-38033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:38024400-38040000	Weak transcription	Fetal Heart	heart
7	chr6:38024600-38033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:38024600-38035200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:38024600-38041800	Weak transcription	Fetal Brain Male	brain
10	chr6:38024600-38045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:38026000-38035200	Weak transcription	Brain Substantia Nigra	brain
12	chr6:38026000-38047600	Weak transcription	Hela-S3	cervix
13	chr6:38026200-38053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:38028200-38034200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:38028400-38036800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:38029000-38033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:38029000-38033600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:38029200-38033200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:38029200-38033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:38029200-38033600	Strong transcription	Placenta	Placenta
21	chr6:38029200-38034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:38029400-38033000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:38029400-38033000	Strong transcription	Fetal Intestine Large	intestine
24	chr6:38029400-38033000	Strong transcription	Lung	lung
25	chr6:38029400-38033000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:38029400-38033200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:38029400-38033200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:38029400-38033200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:38029400-38033400	Strong transcription	NH-A	brain
30	chr6:38029400-38033800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:38029400-38034000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:38029400-38034000	Strong transcription	HepG2	liver
33	chr6:38029400-38034200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:38029400-38034400	Strong transcription	Primary T cells from cord blood	blood
35	chr6:38029600-38035200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:38030000-38034800	Weak transcription	Ovary	ovary
37	chr6:38030000-38035200	Weak transcription	Small Intestine	intestine
38	chr6:38030400-38037800	Weak transcription	Pancreas	Pancrea
39	chr6:38030600-38033000	Weak transcription	Colonic Mucosa	Colon
40	chr6:38030600-38035600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:38030600-38035800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:38030800-38036000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:38030800-38036600	Weak transcription	Fetal Intestine Small	intestine
44	chr6:38030800-38041600	Weak transcription	HMEC	breast
45	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:38031000-38034800	Weak transcription	Psoas Muscle	Psoas
47	chr6:38031200-38033000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:38031400-38034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:38031400-38035200	Weak transcription	Brain Anterior Caudate	brain
50	chr6:38031400-38035600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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