Variant report

Variant	rs7137398
Chromosome Location	chr12:104889619-104889620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
2	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10778337	0.98[ASN][1000 genomes]
rs10861225	0.98[ASN][1000 genomes]
rs1882496	0.83[JPT][hapmap]
rs1882497	0.83[JPT][hapmap]
rs1922265	0.80[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2374397	0.94[ASN][1000 genomes]
rs34318061	0.87[ASN][1000 genomes]
rs34760349	0.98[ASN][1000 genomes]
rs3902812	0.92[ASN][1000 genomes]
rs4964811	0.82[JPT][hapmap]
rs7133525	0.89[ASN][1000 genomes]
rs7312273	0.83[JPT][hapmap]
rs7485263	0.83[JPT][hapmap]
rs7960741	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7963874	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7971806	0.97[ASN][1000 genomes]
rs7976717	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 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	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104875200-104897000	Weak transcription	NHEK	skin
5	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
8	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:104881600-104898600	Weak transcription	A549	lung
14	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
15	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
18	chr12:104884200-104898000	Weak transcription	Gastric	stomach
19	chr12:104885400-104891200	Genic enhancers	Dnd41	blood
20	chr12:104887000-104889800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:104887200-104891200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
24	chr12:104887800-104889800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104887800-104891000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:104888000-104890400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:104888000-104890600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:104888000-104897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:104888200-104890600	Weak transcription	Left Ventricle	heart
31	chr12:104888200-104890600	Weak transcription	Small Intestine	intestine
32	chr12:104888200-104890600	Weak transcription	Spleen	Spleen
33	chr12:104888200-104891400	Weak transcription	Lung	lung
34	chr12:104888200-104893000	Weak transcription	Placenta	Placenta
35	chr12:104888200-104893400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:104888200-104894600	Weak transcription	Esophagus	oesophagus
37	chr12:104888200-104896600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:104888400-104890800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:104888400-104892000	Weak transcription	NH-A	brain
40	chr12:104888400-104893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:104888400-104895000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:104888600-104889800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:104888800-104889800	Enhancers	Thymus	Thymus
44	chr12:104888800-104891000	Enhancers	Fetal Lung	lung
45	chr12:104888800-104897000	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:104888800-104898000	Weak transcription	Aorta	Aorta
47	chr12:104889000-104889800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:104889000-104890000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:104889000-104890000	Weak transcription	Adipose Nuclei	Adipose
50	chr12:104889000-104890000	Enhancers	NHDF-Ad	bronchial

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