Variant report

Variant	rs35911573
Chromosome Location	chr12:119615835-119615836
allele	G/T
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	chr12:119615704-119617828	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:

Variant related genes	Relation type
HSPB8	TF binding region
ENSG00000256884	TF binding region
ENSG00000257095	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11064683	1.00[CEU][hapmap]
rs11064685	1.00[CEU][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs11064694	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064695	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064699	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064701	0.86[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064704	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227588	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12811848	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812680	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34109560	0.87[EUR][1000 genomes]
rs34168259	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34658242	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34689026	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36005387	0.85[EUR][1000 genomes]
rs3782919	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66886955	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67681082	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68062239	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68067444	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138273	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303637	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304005	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73213443	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73213444	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975529	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634173	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119609000-119616000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:119611400-119616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:119613800-119616600	Enhancers	Fetal Heart	heart
4	chr12:119614200-119616200	Weak transcription	Fetal Lung	lung
5	chr12:119614200-119616600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:119614200-119616600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:119614400-119616000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:119614400-119616200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:119614400-119616200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:119614400-119616200	Weak transcription	Spleen	Spleen
11	chr12:119614400-119616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:119614400-119616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:119614400-119616800	Enhancers	NHDF-Ad	bronchial
14	chr12:119614600-119616000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:119614600-119616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:119614600-119616000	Enhancers	Fetal Muscle Leg	muscle
17	chr12:119614600-119616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:119614600-119616200	Enhancers	Hela-S3	cervix
19	chr12:119614600-119616200	Weak transcription	NHEK	skin
20	chr12:119614600-119616400	Weak transcription	Esophagus	oesophagus
21	chr12:119614600-119616400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:119614600-119616400	Weak transcription	Right Atrium	heart
23	chr12:119614600-119616600	Weak transcription	Ovary	ovary
24	chr12:119614600-119616800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:119614600-119616800	Weak transcription	Gastric	stomach
26	chr12:119614800-119616200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:119614800-119616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:119614800-119616400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:119614800-119616400	Weak transcription	Osteobl	bone
30	chr12:119614800-119616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:119615000-119616000	Weak transcription	Adipose Nuclei	Adipose
32	chr12:119615000-119616000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:119615000-119616000	Enhancers	Placenta	Placenta
34	chr12:119615000-119616000	Weak transcription	HSMMtube	muscle
35	chr12:119615000-119616200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:119615000-119616200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:119615000-119616200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:119615000-119616200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:119615000-119616200	Weak transcription	NH-A	brain
40	chr12:119615000-119616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:119615000-119616400	Weak transcription	HUVEC	blood vessel
42	chr12:119615000-119616600	Weak transcription	Aorta	Aorta
43	chr12:119615000-119616600	Weak transcription	Left Ventricle	heart
44	chr12:119615000-119616600	Weak transcription	Psoas Muscle	Psoas
45	chr12:119615200-119616200	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:119615200-119616200	Enhancers	Fetal Muscle Trunk	muscle
47	chr12:119615200-119616200	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:119615200-119616200	Weak transcription	HSMM	muscle
49	chr12:119615600-119616000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:119615600-119616000	Enhancers	A549	lung

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