Variant report

Variant	rs6945041
Chromosome Location	chr7:12687771-12687772
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12687556..12689303-chr7:12690937..12696267,4	K562	blood:
2	chr7:12687097..12689372-chr7:13046142..13048475,2	K562	blood:
3	chr7:12684743..12688656-chr7:12726864..12728584,4	K562	blood:
4	chr7:12686745..12688830-chr7:12726079..12727852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000229233	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17357392	0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1019962	chr7:12683139-12699056	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
4	chr7:12679000-12688600	Weak transcription	Fetal Kidney	kidney
5	chr7:12679000-12693800	Weak transcription	Colonic Mucosa	Colon
6	chr7:12681000-12688400	Weak transcription	Fetal Stomach	stomach
7	chr7:12681400-12690800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:12682400-12693400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:12683600-12690400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:12683600-12693000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:12683800-12688400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:12685000-12688800	Enhancers	HepG2	liver
13	chr7:12685400-12687800	Enhancers	NH-A	brain
14	chr7:12685600-12687800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:12685800-12687800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:12685800-12688600	Enhancers	Hela-S3	cervix
17	chr7:12685800-12692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:12686000-12687800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:12686000-12688400	Weak transcription	HSMM	muscle
20	chr7:12686200-12688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:12686200-12688000	Weak transcription	Placenta	Placenta
22	chr7:12686800-12687800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:12686800-12689000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:12686800-12689600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:12686800-12689800	Enhancers	NHEK	skin
26	chr7:12687000-12687800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:12687000-12687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:12687000-12687800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:12687000-12687800	Enhancers	Stomach Mucosa	stomach
30	chr7:12687000-12687800	Flanking Active TSS	A549	lung
31	chr7:12687000-12687800	Enhancers	HMEC	breast
32	chr7:12687000-12687800	Enhancers	Osteobl	bone
33	chr7:12687000-12689600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:12687200-12688200	Weak transcription	Fetal Lung	lung
35	chr7:12687200-12688400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:12687200-12688400	Enhancers	K562	blood
37	chr7:12687200-12688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:12687400-12688000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:12687400-12688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:12687600-12688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:12687600-12688400	Weak transcription	Placenta Amnion	Placenta Amnion

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