Variant report

Variant	rs7315204
Chromosome Location	chr12:8252917-8252918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8234290..8236525-chr12:8251957..8254343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2231750	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231754	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35574503	1.00[ASN][1000 genomes]
rs73246250	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8235800-8272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:8242400-8253600	Strong transcription	Liver	Liver
3	chr12:8242400-8254000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:8242600-8255000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:8248800-8253000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:8249000-8253000	Weak transcription	Right Ventricle	heart
7	chr12:8249000-8257600	Weak transcription	HSMM	muscle
8	chr12:8249000-8271400	Weak transcription	Fetal Kidney	kidney
9	chr12:8249000-8280000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:8249200-8253000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:8249200-8254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:8249200-8260000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:8249200-8260800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:8249400-8258000	Weak transcription	Fetal Stomach	stomach
15	chr12:8249400-8258200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:8249600-8253000	Weak transcription	Esophagus	oesophagus
17	chr12:8249600-8254400	Weak transcription	Psoas Muscle	Psoas
18	chr12:8249600-8254600	Weak transcription	Fetal Brain Male	brain
19	chr12:8249600-8271000	Weak transcription	Aorta	Aorta
20	chr12:8249600-8293200	Weak transcription	Pancreas	Pancrea
21	chr12:8249600-8298200	Weak transcription	HSMMtube	muscle
22	chr12:8250000-8253000	Weak transcription	Small Intestine	intestine
23	chr12:8250000-8253200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:8250000-8254800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:8250000-8254800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:8250000-8256400	Weak transcription	Spleen	Spleen
27	chr12:8250000-8257000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:8250000-8258200	Weak transcription	Colonic Mucosa	Colon
29	chr12:8250000-8258200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:8250000-8260000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:8250000-8261400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:8250000-8288000	Weak transcription	Ovary	ovary
33	chr12:8250000-8293600	Weak transcription	Lung	lung
34	chr12:8250000-8298400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:8250200-8254600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:8250200-8258600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:8250200-8261200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:8250200-8261600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:8250200-8273200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:8250200-8276600	Weak transcription	Left Ventricle	heart
41	chr12:8250200-8298400	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:8250400-8253600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:8250400-8253600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:8250400-8254800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:8250400-8257800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:8250800-8255400	Weak transcription	NH-A	brain
47	chr12:8250800-8255800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:8250800-8256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:8250800-8258200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:8250800-8258200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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