Variant report

Variant	rs7300355
Chromosome Location	chr12:83397270-83397271
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	chr12:83079062..83081890-chr12:83395657..83398475,2	MCF-7	breast:
2	chr12:83396959..83399926-chr12:83808616..83810997,2	K562	blood:

Variant related genes	Relation type
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1023967	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1025556	1.00[JPT][hapmap]
rs10778923	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10862533	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12821905	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs1796156	1.00[CHB][hapmap]
rs35455078	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3993375	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7296753	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7298790	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7960659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs892539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83358400-83397600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:83358600-83399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:83368800-83399200	Weak transcription	Esophagus	oesophagus
6	chr12:83375600-83405600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:83377600-83400000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:83377600-83409400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:83378400-83409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:83378800-83409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:83380000-83403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:83380000-83409200	Weak transcription	Gastric	stomach
14	chr12:83381800-83399400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:83382400-83399000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:83382600-83399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:83386000-83404200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:83386200-83403600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:83388400-83400800	Weak transcription	Fetal Kidney	kidney
20	chr12:83390200-83409200	Weak transcription	Pancreas	Pancrea
21	chr12:83390400-83399200	Weak transcription	Fetal Intestine Large	intestine
22	chr12:83391000-83399400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:83392200-83409000	Weak transcription	Stomach Mucosa	stomach
24	chr12:83394800-83397600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:83394800-83398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:83394800-83399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:83394800-83399200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:83394800-83399200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:83394800-83399200	Weak transcription	Fetal Lung	lung
30	chr12:83394800-83399200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:83395000-83399200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:83395000-83399200	Weak transcription	Fetal Stomach	stomach
33	chr12:83395200-83399600	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:83396200-83398800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:83396800-83397600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:83396800-83397800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:83397000-83397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:83397000-83398400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:83397000-83398400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:83397000-83398400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:83397000-83403800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:83397200-83397400	Enhancers	Brain Substantia Nigra	brain
43	chr12:83397200-83398000	Enhancers	Fetal Heart	heart
44	chr12:83397200-83398200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:83397200-83398400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:83397200-83398400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:83397200-83398400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:83397200-83398600	Enhancers	HUES48 Cell Line	embryonic stem cell

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