Variant report

Variant	rs7965248
Chromosome Location	chr12:62921062-62921063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62915089..62916755-chr12:62920315..62922629,2	MCF-7	breast:
2	chr12:62919040..62922013-chr12:62927125..62929427,2	K562	blood:
3	chr12:62920932..62923566-chr12:62937495..62939485,2	MCF-7	breast:
4	chr12:62920513..62925358-chr12:62927927..62931461,4	K562	blood:
5	chr12:62918451..62921309-chr12:62921578..62923186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202034	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10161203	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459257	0.87[GIH][hapmap]
rs1056340	0.84[GIH][hapmap]
rs10784301	0.81[GIH][hapmap];0.90[MEX][hapmap]
rs10877854	0.81[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap]
rs10877858	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877861	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157629	0.84[GIH][hapmap]
rs1603823	0.81[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap]
rs17098060	0.84[JPT][hapmap]
rs1874881	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133304	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2173086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858677	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4763023	0.81[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap]
rs4763167	1.00[ASW][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.87[ASN][1000 genomes]
rs4763171	0.81[CHD][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap]
rs61919481	0.86[ASN][1000 genomes]
rs6581450	0.81[CHD][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap]
rs6581451	0.97[ASN][1000 genomes]
rs7309087	0.87[ASN][1000 genomes]
rs7953380	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7970112	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
4	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
5	chr12:62876000-62937400	Weak transcription	Gastric	stomach
6	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
7	chr12:62894400-62926200	Weak transcription	NH-A	brain
8	chr12:62897600-62931000	Weak transcription	K562	blood
9	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
10	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
11	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:62902600-62926600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:62902600-62927000	Weak transcription	Colonic Mucosa	Colon
14	chr12:62903600-62926200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:62903600-62926200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:62903600-62926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:62903600-62949800	Weak transcription	NHEK	skin
18	chr12:62903800-62924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:62903800-62926200	Weak transcription	Hela-S3	cervix
20	chr12:62904400-62926200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:62904600-62926200	Weak transcription	HMEC	breast
22	chr12:62904600-62927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:62904600-62929200	Weak transcription	HUVEC	blood vessel
24	chr12:62905400-62926600	Weak transcription	HSMMtube	muscle
25	chr12:62906400-62943800	Weak transcription	Aorta	Aorta
26	chr12:62906600-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:62906800-62926200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:62906800-62927400	Weak transcription	Brain Germinal Matrix	brain
29	chr12:62907000-62926800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:62907000-62927800	Weak transcription	Lung	lung
31	chr12:62907000-62931000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:62907400-62940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:62908200-62926200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:62908200-62927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:62908400-62931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:62908800-62926200	Weak transcription	Fetal Lung	lung
38	chr12:62908800-62927400	Weak transcription	Left Ventricle	heart
39	chr12:62909000-62927200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:62909000-62927200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:62909200-62926000	Weak transcription	Dnd41	blood
42	chr12:62909200-62926200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:62909400-62923400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:62909400-62927400	Weak transcription	Fetal Kidney	kidney
45	chr12:62910600-62927000	Weak transcription	Fetal Brain Female	brain
46	chr12:62911400-62944000	Weak transcription	Spleen	Spleen
47	chr12:62911600-62925000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:62911800-62930400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:62912400-62924600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:62912600-62926200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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