Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105626966..105630516-chr12:105673384..105677025,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1044450	chr12:105668451-105682822	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105673200-105675800	Enhancers	Stomach Mucosa	stomach
2	chr12:105673200-105676200	Enhancers	HepG2	liver
3	chr12:105674000-105676200	Enhancers	Fetal Intestine Large	intestine
4	chr12:105674000-105676400	Flanking Active TSS	A549	lung
5	chr12:105674200-105675800	Enhancers	Hela-S3	cervix
6	chr12:105674200-105676200	Enhancers	Fetal Intestine Small	intestine
7	chr12:105674200-105676400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:105674600-105675600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:105674600-105675600	Enhancers	NHEK	skin
10	chr12:105674800-105675600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:105674800-105675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:105674800-105675600	Enhancers	Pancreas	Pancrea
13	chr12:105674800-105675600	Enhancers	HUVEC	blood vessel
14	chr12:105674800-105676200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:105675000-105675600	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:105675000-105675600	Enhancers	Gastric	stomach
17	chr12:105675000-105675600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:105675000-105675600	Enhancers	HMEC	breast
19	chr12:105675200-105675600	Bivalent Enhancer	Small Intestine	intestine
20	chr12:105675200-105675600	Weak transcription	Osteobl	bone

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