Variant report

Variant	rs7972652
Chromosome Location	chr12:119620040-119620041
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	RCOR1	chr12:119619627-119620340	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:119616221-119620115	IMR90	lung:	n/a	n/a
3	JUND	chr12:119619824-119620103	H1-hESC	embryonic stem cell:	n/a	chr12:119619955-119619966
4	JUND	chr12:119619908-119620053	K562	blood:	n/a	chr12:119619955-119619966
5	JUND	chr12:119619813-119620125	HepG2	liver:	n/a	chr12:119619955-119619966

No.	Distal block	Cell Line	Cell type
1	chr12:119411792..119414282-chr12:119618328..119620117,2	MCF-7	breast:
2	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:
3	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:

Variant related genes	Relation type
HSPB8	TF binding region
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10774488	0.88[JPT][hapmap]
rs10849632	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038	0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11064698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490242	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490244	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303610	0.84[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616200-119621000	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:119616400-119620800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:119616400-119622200	Active TSS	Right Atrium	heart
4	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
5	chr12:119616600-119620200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr12:119616600-119620200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:119616600-119620600	Active TSS	Left Ventricle	heart
8	chr12:119616600-119621000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:119616600-119621000	Active TSS	Psoas Muscle	Psoas
10	chr12:119616600-119622400	Active TSS	Aorta	Aorta
11	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
12	chr12:119616800-119620200	Active TSS	Brain Substantia Nigra	brain
13	chr12:119617000-119620600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
15	chr12:119617200-119620200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:119617400-119621000	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:119617600-119621800	Active TSS	Brain Hippocampus Middle	brain
19	chr12:119618400-119620200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:119618400-119621000	Active TSS	HSMMtube	muscle
21	chr12:119618400-119621200	Active TSS	Esophagus	oesophagus
22	chr12:119618400-119624000	Weak transcription	Spleen	Spleen
23	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:119618600-119620600	Active TSS	Stomach Smooth Muscle	stomach
25	chr12:119618600-119621000	Active TSS	HSMM	muscle
26	chr12:119618800-119620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:119618800-119620600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:119618800-119620600	Active TSS	Fetal Muscle Leg	muscle
29	chr12:119618800-119620800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:119618800-119622200	Active TSS	Fetal Muscle Trunk	muscle
31	chr12:119618800-119625800	Weak transcription	Gastric	stomach
32	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:119619000-119620600	Weak transcription	Ovary	ovary
35	chr12:119619000-119621000	Weak transcription	Fetal Thymus	thymus
36	chr12:119619000-119621000	Weak transcription	A549	lung
37	chr12:119619000-119626400	Weak transcription	Osteobl	bone
38	chr12:119619200-119620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:119619200-119621200	Enhancers	NHDF-Ad	bronchial
40	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
41	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
42	chr12:119619400-119623400	Weak transcription	Fetal Stomach	stomach
43	chr12:119619600-119620600	Weak transcription	Fetal Lung	lung
44	chr12:119619600-119621800	Transcr. at gene 5' and 3'	Placenta	Placenta
45	chr12:119619600-119625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:119619800-119620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:119619800-119624600	Weak transcription	NHLF	lung
48	chr12:119620000-119620200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:119620000-119620600	Enhancers	Lung	lung
50	chr12:119620000-119620600	Active TSS	Skeletal Muscle Female	skeletal muscle

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