Variant report

Variant	rs12706346
Chromosome Location	chr7:121081314-121081315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121035002..121037392-chr7:121079786..121082049,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2536192	1.00[CHD][hapmap]
rs2707460	1.00[CHD][hapmap]
rs2707471	1.00[CHD][hapmap]
rs4727922	1.00[CHD][hapmap]

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	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2757238	chr7:121059871-121089955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759559	chr7:121059871-121089955	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121077800-121081600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:121077800-121083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:121078600-121086600	Weak transcription	NHDF-Ad	bronchial
4	chr7:121078800-121082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:121078800-121082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:121078800-121082800	Weak transcription	HMEC	breast
7	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:121079000-121082800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:121079000-121082800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:121079000-121082800	Weak transcription	Thymus	Thymus
11	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:121079200-121082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:121079200-121082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:121080800-121081400	Enhancers	Fetal Thymus	thymus
15	chr7:121080800-121081400	Enhancers	Dnd41	blood
16	chr7:121080800-121081600	Active TSS	K562	blood
17	chr7:121080800-121081800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:121081000-121081400	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr7:121081000-121081400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:121081000-121081400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:121081000-121081400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:121081000-121081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:121081000-121081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:121081000-121081400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr7:121081000-121081400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr7:121081000-121081400	Enhancers	Esophagus	oesophagus
27	chr7:121081000-121081400	Enhancers	Placenta	Placenta
28	chr7:121081000-121081400	Enhancers	Spleen	Spleen
29	chr7:121081000-121081400	Enhancers	NHLF	lung
30	chr7:121081000-121081600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:121081000-121081600	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:121081000-121081800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:121081000-121081800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:121081000-121081800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:121081000-121081800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:121081000-121082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:121081000-121082200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:121081000-121083200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:121081200-121081400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:121081200-121081400	Active TSS	Primary T cells from cord blood	blood
41	chr7:121081200-121081400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:121081200-121081400	Flanking Active TSS	HepG2	liver
43	chr7:121081200-121081600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:121081200-121081600	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:121081200-121081800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:121081200-121081800	Active TSS	GM12878-XiMat	blood
47	chr7:121081200-121082200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:121081200-121083000	Weak transcription	Lung	lung
49	chr7:121081200-121083000	Weak transcription	Pancreas	Pancrea
50	chr7:121081200-121086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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