Variant report

Variant	rs34689026
Chromosome Location	chr12:119619736-119619737
allele	A/C
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

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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11064685	0.87[EUR][1000 genomes]
rs11064694	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064695	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064701	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064704	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227588	0.87[EUR][1000 genomes]
rs12811848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812680	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109560	0.83[EUR][1000 genomes]
rs34168259	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911573	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36005387	0.81[EUR][1000 genomes]
rs3782919	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66886955	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68062239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213443	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213444	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975529	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9634173	0.91[EUR][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:71 , 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	chr12:119616600-119619800	Active TSS	Lung	lung
6	chr12:119616600-119619800	Flanking Active TSS	NH-A	brain
7	chr12:119616600-119620000	Active TSS	Brain Angular Gyrus	brain
8	chr12:119616600-119620200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr12:119616600-119620200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:119616600-119620600	Active TSS	Left Ventricle	heart
11	chr12:119616600-119621000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:119616600-119621000	Active TSS	Psoas Muscle	Psoas
13	chr12:119616600-119622400	Active TSS	Aorta	Aorta
14	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
15	chr12:119616800-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:119616800-119620200	Active TSS	Brain Substantia Nigra	brain
17	chr12:119617000-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:119617000-119620600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
20	chr12:119617200-119619800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:119617200-119620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:119617200-119620200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:119617400-119620000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:119617400-119621000	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:119617600-119621800	Active TSS	Brain Hippocampus Middle	brain
27	chr12:119617800-119620000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:119617800-119620000	Flanking Active TSS	Fetal Heart	heart
29	chr12:119617800-119620000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
30	chr12:119618200-119619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:119618400-119620200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:119618400-119621000	Active TSS	HSMMtube	muscle
33	chr12:119618400-119621200	Active TSS	Esophagus	oesophagus
34	chr12:119618400-119624000	Weak transcription	Spleen	Spleen
35	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:119618600-119619800	Active TSS	NHLF	lung
37	chr12:119618600-119620600	Active TSS	Stomach Smooth Muscle	stomach
38	chr12:119618600-119621000	Active TSS	HSMM	muscle
39	chr12:119618800-119620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:119618800-119620000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:119618800-119620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:119618800-119620600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:119618800-119620600	Active TSS	Fetal Muscle Leg	muscle
44	chr12:119618800-119620800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:119618800-119622200	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:119618800-119625800	Weak transcription	Gastric	stomach
47	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:119619000-119620000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:119619000-119620000	Enhancers	HUVEC	blood vessel

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