Variant report

Variant	rs11610085
Chromosome Location	chr12:26113695-26113696
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	TCF7L2	chr12:26113640-26114691	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
3	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
4	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:26112523-26113788	PANC-1	pancreas:	n/a	n/a
7	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
2	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8-AS1	TF binding region
ENSG00000256440	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11609554	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11610628	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487520	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7966942	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:26110600-26113800	Active TSS	Right Ventricle	heart
5	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:26110600-26114000	Active TSS	Right Atrium	heart
7	chr12:26110800-26113800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:26110800-26113800	Active TSS	Ovary	ovary
9	chr12:26110800-26114600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:26111000-26114200	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:26112200-26113800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:26112800-26113800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr12:26112800-26113800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr12:26112800-26114200	Flanking Active TSS	Osteobl	bone
15	chr12:26112800-26116600	Weak transcription	Spleen	Spleen
16	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
17	chr12:26113000-26114000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr12:26113000-26114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:26113000-26114800	Enhancers	Fetal Heart	heart
20	chr12:26113000-26115200	Enhancers	Lung	lung
21	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:26113200-26113800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:26113200-26113800	Enhancers	Fetal Muscle Leg	muscle
24	chr12:26113200-26114000	Flanking Active TSS	HMEC	breast
25	chr12:26113200-26114000	Flanking Active TSS	NHLF	lung
26	chr12:26113200-26114200	Flanking Active TSS	HUVEC	blood vessel
27	chr12:26113400-26113800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:26113400-26113800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:26113400-26113800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr12:26113400-26113800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:26113400-26113800	Enhancers	Fetal Stomach	stomach
32	chr12:26113400-26113800	Enhancers	Left Ventricle	heart
33	chr12:26113400-26114000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:26113400-26114000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:26113400-26114000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:26113400-26114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:26113400-26114000	Enhancers	Psoas Muscle	Psoas
38	chr12:26113400-26114200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr12:26113400-26114200	Enhancers	NHEK	skin
40	chr12:26113400-26114600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:26113400-26114600	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:26113400-26114600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:26113400-26114800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:26113400-26114800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:26113400-26114800	Enhancers	Fetal Lung	lung
46	chr12:26113400-26115000	Enhancers	Aorta	Aorta
47	chr12:26113400-26115000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:26113400-26115200	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:26113400-26116400	Weak transcription	Esophagus	oesophagus
50	chr12:26113400-26116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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