Variant report

Variant	rs2231750
Chromosome Location	chr12:8245239-8245240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8234739..8236344-chr12:8242964..8245386,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2231754	0.86[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35574503	1.00[ASN][1000 genomes]
rs7312476	0.81[CEU][hapmap]
rs7315204	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8235400-8247200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:8235800-8246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:8235800-8250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:8235800-8272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:8236800-8246800	Weak transcription	Right Atrium	heart
6	chr12:8237200-8247200	Weak transcription	Fetal Brain Male	brain
7	chr12:8237600-8245600	Weak transcription	Fetal Heart	heart
8	chr12:8238400-8249400	Strong transcription	Fetal Stomach	stomach
9	chr12:8240800-8250800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr12:8240800-8251200	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:8241200-8247000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:8241200-8250800	Weak transcription	Stomach Mucosa	stomach
13	chr12:8241200-8251000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:8241200-8251400	Strong transcription	Fetal Brain Female	brain
15	chr12:8241200-8251600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:8241400-8247400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:8241400-8251000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:8241600-8247400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:8241600-8251000	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr12:8241600-8251000	Strong transcription	Dnd41	blood
21	chr12:8242000-8250000	Strong transcription	Colonic Mucosa	Colon
22	chr12:8242000-8250400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:8242000-8250400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:8242000-8251000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:8242000-8251000	Strong transcription	Fetal Intestine Large	intestine
26	chr12:8242000-8251400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:8242200-8250200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:8242200-8250800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:8242200-8250800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:8242200-8251000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:8242200-8251000	Strong transcription	Brain Anterior Caudate	brain
32	chr12:8242200-8251000	Strong transcription	HepG2	liver
33	chr12:8242200-8251000	Strong transcription	Osteobl	bone
34	chr12:8242200-8251600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:8242200-8251600	Strong transcription	Brain Hippocampus Middle	brain
36	chr12:8242200-8251600	Strong transcription	Fetal Thymus	thymus
37	chr12:8242200-8252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:8242400-8248200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:8242400-8249000	Strong transcription	NHLF	lung
40	chr12:8242400-8249200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:8242400-8249400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:8242400-8250000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:8242400-8250000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:8242400-8250000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:8242400-8250000	Strong transcription	Lung	lung
46	chr12:8242400-8250000	Strong transcription	Ovary	ovary
47	chr12:8242400-8250000	Strong transcription	Spleen	Spleen
48	chr12:8242400-8250200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:8242400-8250200	Strong transcription	Left Ventricle	heart
50	chr12:8242400-8250600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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