Variant report

Variant	rs7975787
Chromosome Location	chr12:105513580-105513581
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	chr12:105508971..105510510-chr12:105512045..105514800,2	K562	blood:
2	chr12:105508775..105512282-chr12:105513307..105515805,3	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112291	1.00[ASN][1000 genomes]
rs11112292	1.00[ASN][1000 genomes]
rs11112293	1.00[ASN][1000 genomes]
rs11112294	1.00[ASN][1000 genomes]
rs11112295	1.00[ASN][1000 genomes]
rs11112315	1.00[ASN][1000 genomes]
rs11112316	1.00[ASN][1000 genomes]
rs11112318	1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112389	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112410	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11495192	1.00[ASN][1000 genomes]
rs11559871	0.83[EUR][1000 genomes]
rs11829598	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196852	0.82[YRI][hapmap]
rs12299366	0.89[EUR][1000 genomes]
rs12299391	0.89[EUR][1000 genomes]
rs12301914	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12304384	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12305766	0.83[EUR][1000 genomes]
rs12307372	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311156	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12312965	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12317637	0.84[EUR][1000 genomes]
rs12317804	0.89[EUR][1000 genomes]
rs12321199	0.89[EUR][1000 genomes]
rs12321518	0.87[EUR][1000 genomes]
rs12321534	0.87[CEU][hapmap]
rs12369202	1.00[ASN][1000 genomes]
rs12369490	1.00[ASN][1000 genomes]
rs12372369	1.00[ASN][1000 genomes]
rs12372454	1.00[ASN][1000 genomes]
rs12424191	0.87[EUR][1000 genomes]
rs12424709	0.87[EUR][1000 genomes]
rs12425803	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036595	1.00[ASN][1000 genomes]
rs17036608	1.00[ASN][1000 genomes]
rs1801070	1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs55679730	1.00[ASN][1000 genomes]
rs55916348	1.00[ASN][1000 genomes]
rs56284118	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862143	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.87[EUR][1000 genomes]
rs59593474	0.89[EUR][1000 genomes]
rs60835294	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999193	0.89[EUR][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7132816	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7133728	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136453	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138574	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300130	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7302842	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7305406	0.87[EUR][1000 genomes]
rs7310860	1.00[ASN][1000 genomes]
rs7313309	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315964	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179996	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179998	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180001	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181822	0.87[EUR][1000 genomes]
rs73181857	0.83[EUR][1000 genomes]
rs73193619	1.00[ASN][1000 genomes]
rs73193626	1.00[ASN][1000 genomes]
rs73193630	1.00[ASN][1000 genomes]
rs73193631	1.00[ASN][1000 genomes]
rs7956643	1.00[ASN][1000 genomes]
rs7964184	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	1.00[ASN][1000 genomes]
rs7971630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978034	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105503800-105516600	Weak transcription	Gastric	stomach
6	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
7	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
8	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
9	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
10	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
11	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
12	chr12:105505200-105517800	Strong transcription	HSMM	muscle
13	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:105505200-105531000	Strong transcription	HMEC	breast
15	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
16	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:105505400-105514000	Strong transcription	A549	lung
21	chr12:105505400-105519000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:105505600-105519200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:105505600-105530800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:105505600-105537200	Strong transcription	Osteobl	bone
26	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:105505800-105514800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:105505800-105516800	Strong transcription	NH-A	brain
30	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:105506000-105514400	Strong transcription	Hela-S3	cervix
32	chr12:105506000-105529000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:105506200-105514600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
37	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:105506600-105513600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:105506800-105568800	Strong transcription	Dnd41	blood
41	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:105507000-105513600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:105507000-105528400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:105507600-105514400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:105507600-105515000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr12:105507600-105527800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel

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