Variant report

Variant	rs56302012
Chromosome Location	chr7:16783855-16783856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:
2	chr7:16776463..16781643-chr7:16783792..16791142,8	K562	blood:
3	chr7:16783411..16785467-chr7:16789588..16791231,2	K562	blood:
4	chr7:16783316..16786231-chr7:16801577..16804005,2	K562	blood:
5	chr7:16682801..16684862-chr7:16783042..16785967,2	K562	blood:
6	chr7:16779895..16784354-chr7:16785318..16788487,4	K562	blood:
7	chr7:16783313..16785112-chr7:16792192..16793876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1149516	1.00[EUR][1000 genomes]
rs1149517	1.00[EUR][1000 genomes]
rs1149518	1.00[EUR][1000 genomes]
rs1149520	1.00[EUR][1000 genomes]
rs1149521	1.00[EUR][1000 genomes]
rs1149523	1.00[EUR][1000 genomes]
rs1149525	1.00[EUR][1000 genomes]
rs2177784	1.00[EUR][1000 genomes]
rs55722030	1.00[EUR][1000 genomes]
rs57776102	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968207	1.00[EUR][1000 genomes]
rs706054	1.00[EUR][1000 genomes]
rs706056	1.00[EUR][1000 genomes]
rs706058	1.00[EUR][1000 genomes]
rs706060	1.00[EUR][1000 genomes]
rs706066	1.00[EUR][1000 genomes]
rs706067	1.00[EUR][1000 genomes]
rs706068	1.00[EUR][1000 genomes]
rs706069	1.00[EUR][1000 genomes]
rs73067698	1.00[EUR][1000 genomes]
rs73069705	1.00[EUR][1000 genomes]
rs73069707	1.00[EUR][1000 genomes]
rs73069710	1.00[EUR][1000 genomes]
rs73069712	1.00[EUR][1000 genomes]
rs73069719	1.00[EUR][1000 genomes]
rs73069720	1.00[EUR][1000 genomes]
rs73069724	1.00[EUR][1000 genomes]
rs73069745	1.00[EUR][1000 genomes]
rs73069748	1.00[EUR][1000 genomes]
rs73069757	1.00[EUR][1000 genomes]
rs818492	1.00[EUR][1000 genomes]
rs818807	1.00[EUR][1000 genomes]
rs818808	1.00[EUR][1000 genomes]
rs819003	1.00[EUR][1000 genomes]
rs866565	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16771200-16788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16777600-16785000	Enhancers	K562	blood
3	chr7:16778000-16784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:16779600-16784000	Weak transcription	Right Atrium	heart
5	chr7:16779600-16784200	Weak transcription	Pancreas	Pancrea
6	chr7:16779600-16784400	Enhancers	HUVEC	blood vessel
7	chr7:16779800-16785600	Enhancers	Fetal Lung	lung
8	chr7:16780000-16784400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:16780200-16784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16780200-16786400	Weak transcription	Ovary	ovary
11	chr7:16780800-16784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:16781400-16784200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:16781400-16784800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:16781400-16793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:16781600-16786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:16781600-16786800	Weak transcription	Fetal Heart	heart
17	chr7:16781800-16784000	Weak transcription	Right Ventricle	heart
18	chr7:16781800-16784200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:16781800-16784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:16781800-16786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:16781800-16786800	Weak transcription	NHDF-Ad	bronchial
22	chr7:16782200-16787000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:16782400-16784000	Weak transcription	Left Ventricle	heart
24	chr7:16782600-16785600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:16782800-16785200	Weak transcription	Fetal Intestine Small	intestine
26	chr7:16783000-16784200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:16783200-16784400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:16783400-16784000	Weak transcription	Fetal Stomach	stomach
29	chr7:16783400-16784200	Enhancers	Stomach Mucosa	stomach
30	chr7:16783600-16784800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:16783600-16792800	Weak transcription	NH-A	brain

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