Variant report

Variant	rs7487508
Chromosome Location	chr12:117618743-117618744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117616880..117620516-chr12:117626730..117630376,5	K562	blood:
2	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
3	chr12:117618719..117620255-chr12:117621421..117622933,2	MCF-7	breast:
4	chr12:117610469..117613124-chr12:117617825..117619883,2	MCF-7	breast:
5	chr12:117612768..117619869-chr12:117625654..117629590,13	MCF-7	breast:
6	chr12:117603513..117606038-chr12:117617594..117619506,2	K562	blood:
7	chr12:117611828..117614265-chr12:117616763..117619473,3	K562	blood:
8	chr12:117615421..117617257-chr12:117618416..117620789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1060233	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850779	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10850780	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068380	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068388	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068393	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297092	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12298285	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316322	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12319767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322862	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1466852	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17508240	1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238052	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766832	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766833	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767508	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4767510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767517	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56014034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73206036	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206082	0.83[EUR][1000 genomes]
rs73206083	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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
3	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:117585600-117619000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:117588800-117618800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:117588800-117619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:117589400-117623600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:117589600-117619400	Strong transcription	Brain Germinal Matrix	brain
20	chr12:117589800-117618800	Strong transcription	Fetal Brain Female	brain
21	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:117590200-117618800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:117590600-117619000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:117590600-117619400	Strong transcription	Fetal Lung	lung
26	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:117590800-117619600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:117590800-117623400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
33	chr12:117591000-117620200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:117591000-117624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:117593400-117619000	Strong transcription	Dnd41	blood
36	chr12:117593600-117619400	Strong transcription	Fetal Thymus	thymus
37	chr12:117593800-117625000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:117593800-117625600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:117593800-117625600	Strong transcription	Placenta	Placenta
40	chr12:117593800-117625800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:117594000-117625800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:117597600-117624400	Strong transcription	Fetal Intestine Large	intestine
43	chr12:117598600-117624600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:117601000-117620600	Weak transcription	Stomach Mucosa	stomach
45	chr12:117602200-117624600	Strong transcription	Primary B cells from cord blood	blood
46	chr12:117603400-117624600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:117607000-117619600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:117607400-117618800	Strong transcription	GM12878-XiMat	blood
49	chr12:117607800-117619000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:117607800-117624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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