Variant report

Variant	rs6756855
Chromosome Location	chr2:233756610-233756611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:233755425-233756683	ECC-1	luminal epithelium:	n/a	n/a
2	E2F4	chr2:233756345-233756849	MCF10A-Er-Src	breast:	n/a	chr2:233756501-233756508 chr2:233756501-233756508 chr2:233756501-233756508
3	FOS	chr2:233756274-233756618	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233739669..233741368-chr2:233754744..233756796,2	MCF-7	breast:
2	chr2:233748378..233751543-chr2:233754163..233756692,4	MCF-7	breast:
3	chr2:233744737..233747188-chr2:233755867..233757866,2	MCF-7	breast:

Variant related genes	Relation type
NGEF	TF binding region
ENSG00000182600	Chromatin interaction
ENSG00000066248	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6731201	1.00[AMR][1000 genomes]
rs6736310	1.00[AMR][1000 genomes]
rs6741408	1.00[AMR][1000 genomes]
rs999712	1.00[AMR][1000 genomes]

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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233743200-233759600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:233745600-233759800	Strong transcription	Liver	Liver
3	chr2:233749400-233766000	Weak transcription	A549	lung
4	chr2:233750600-233759800	Strong transcription	HepG2	liver
5	chr2:233750800-233761000	Weak transcription	Stomach Mucosa	stomach
6	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:233751200-233758400	Weak transcription	Fetal Brain Male	brain
8	chr2:233753200-233757200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:233754800-233756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:233755400-233756800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:233755400-233756800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:233755400-233757000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:233755400-233757000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr2:233755400-233759800	Strong transcription	Colonic Mucosa	Colon
15	chr2:233755600-233756800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:233755600-233756800	Flanking Active TSS	HMEC	breast
17	chr2:233755600-233756800	Flanking Active TSS	Osteobl	bone
18	chr2:233755600-233757000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:233755600-233757000	Enhancers	HSMM	muscle
20	chr2:233755600-233757400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:233755600-233757400	Enhancers	Brain Angular Gyrus	brain
22	chr2:233755600-233757400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:233755600-233757800	Strong transcription	Gastric	stomach
24	chr2:233755600-233759400	Strong transcription	Fetal Intestine Small	intestine
25	chr2:233755800-233756800	Enhancers	Esophagus	oesophagus
26	chr2:233755800-233756800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr2:233755800-233757000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:233755800-233757200	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:233755800-233757200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:233755800-233757400	Enhancers	Brain Anterior Caudate	brain
31	chr2:233756000-233756800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr2:233756000-233756800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:233756000-233756800	Enhancers	NHEK	skin
34	chr2:233756000-233757200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:233756000-233758200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:233756200-233756800	Enhancers	Ovary	ovary
37	chr2:233756200-233756800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:233756200-233757000	Strong transcription	Fetal Brain Female	brain
39	chr2:233756200-233757000	Enhancers	Pancreas	Pancrea
40	chr2:233756200-233763600	Weak transcription	NHLF	lung
41	chr2:233756400-233756800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:233756400-233757000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:233756400-233759200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:233756400-233763800	Weak transcription	Right Atrium	heart
45	chr2:233756600-233757800	Weak transcription	Spleen	Spleen
46	chr2:233756600-233763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain

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