Variant report

Variant	rs12995091
Chromosome Location	chr2:46661991-46661992
allele	A/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	RAD21	chr2:46661909-46662397	IMR90	lung:	n/a	n/a
2	MAX	chr2:46661806-46662556	HepG2	liver:	n/a	n/a
3	HNF4A	chr2:46661964-46662470	HepG2	liver:	n/a	chr2:46662259-46662274
4	MAZ	chr2:46661723-46662646	IMR90	lung:	n/a	n/a
5	SP1	chr2:46661945-46662528	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:46661726-46662506	K562	blood:	n/a	n/a
7	NFIC	chr2:46661979-46662501	HepG2	liver:	n/a	n/a
8	EP300	chr2:46661914-46662570	HepG2	liver:	n/a	chr2:46662005-46662021
9	TEAD4	chr2:46661755-46662615	HepG2	liver:	n/a	chr2:46661880-46661889
10	HDAC2	chr2:46661954-46662494	HepG2	liver:	n/a	n/a
11	EP300	chr2:46661939-46662509	HepG2	liver:	n/a	chr2:46662005-46662021
12	MYBL2	chr2:46661871-46662574	HepG2	liver:	n/a	n/a
13	FOXA2	chr2:46661970-46662419	HepG2	liver:	n/a	n/a
14	RCOR1	chr2:46661911-46662820	IMR90	lung:	n/a	n/a
15	HNF4G	chr2:46661950-46662523	HepG2	liver:	n/a	chr2:46662260-46662275

No.	Distal block	Cell Line	Cell type
1	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:
2	chr2:46661044..46663217-chr2:46670020..46671893,2	MCF-7	breast:
3	chr2:46655810..46658802-chr2:46659495..46663165,3	MCF-7	breast:
4	chr2:46616106..46618804-chr2:46660579..46662953,2	K562	blood:

Variant related genes	Relation type
TMEM247	TF binding region
ENSG00000187600	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction

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

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

rs_ID	r²[population]
rs13011721	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1001902	chr2:46651624-46675665	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997637	chr2:46651624-46676628	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1003646	chr2:46651624-46677186	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv581745	chr2:46660445-46693963	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46657200-46672200	Enhancers	HepG2	liver
2	chr2:46657600-46663800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:46659200-46662200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:46659200-46665600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:46660200-46662200	Enhancers	Placenta	Placenta
6	chr2:46660400-46662400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:46660400-46665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:46660400-46665800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:46660400-46666200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:46660600-46662000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:46660600-46662200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:46660600-46662200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:46660600-46665800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:46660600-46665800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:46660600-46665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:46660800-46663800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:46660800-46665200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:46660800-46665400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:46660800-46669600	Weak transcription	Pancreas	Pancrea
20	chr2:46661000-46663200	Enhancers	K562	blood
21	chr2:46661200-46662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:46661200-46663200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:46661200-46663400	Weak transcription	Small Intestine	intestine
24	chr2:46661200-46663800	Enhancers	HSMMtube	muscle
25	chr2:46661600-46662200	Enhancers	Spleen	Spleen
26	chr2:46661600-46662400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:46661600-46663200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:46661600-46663400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:46661600-46663400	Enhancers	HSMM	muscle
30	chr2:46661600-46663600	Enhancers	HMEC	breast
31	chr2:46661600-46664000	Enhancers	NHLF	lung
32	chr2:46661800-46662200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:46661800-46662200	Enhancers	Fetal Thymus	thymus
34	chr2:46661800-46662400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:46661800-46662400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:46661800-46662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:46661800-46662600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:46661800-46663200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:46661800-46663200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:46661800-46663200	Enhancers	NHEK	skin
41	chr2:46661800-46663600	Enhancers	Osteobl	bone
42	chr2:46661800-46663800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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