Variant report

Variant	rs12247024
Chromosome Location	chr10:94368052-94368053
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94351172..94353597-chr10:94367724..94369718,2	MCF-7	breast:
2	chr10:94367337..94368987-chr10:94371492..94374274,2	K562	blood:

Variant related genes	Relation type
ENSG00000138160	Chromatin interaction

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

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

rs_ID	r²[population]
rs10082524	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187109	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187110	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11187111	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187112	1.00[CEU][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187116	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187118	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11187126	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187132	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12240557	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12243009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12251379	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12252836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12254289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12254474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256435	1.00[CEU][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258463	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262390	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12263166	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2275729	0.91[YRI][hapmap]
rs2497311	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94353600-94403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94354000-94372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:94354200-94369000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:94354800-94373400	Weak transcription	Fetal Intestine Small	intestine
7	chr10:94355000-94368200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:94355000-94372200	Weak transcription	HSMM	muscle
9	chr10:94355200-94372000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:94355600-94368400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr10:94355800-94369000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:94355800-94369200	Weak transcription	NH-A	brain
13	chr10:94355800-94369400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr10:94356800-94385600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:94358600-94372200	Weak transcription	K562	blood
16	chr10:94361800-94372600	Weak transcription	NHEK	skin
17	chr10:94362000-94372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:94362000-94372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:94362000-94381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:94362000-94389400	Weak transcription	NHLF	lung
21	chr10:94362000-94399800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:94362400-94368600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:94362400-94371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:94362600-94376400	Weak transcription	Fetal Lung	lung
25	chr10:94362800-94372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
27	chr10:94364000-94390600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:94364000-94416400	Strong transcription	Dnd41	blood
29	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr10:94364400-94368400	Weak transcription	HMEC	breast
31	chr10:94364400-94403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
33	chr10:94364600-94369200	Weak transcription	Osteobl	bone
34	chr10:94364800-94368400	Weak transcription	NHDF-Ad	bronchial
35	chr10:94364800-94383600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:94365000-94368600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:94365000-94372000	Weak transcription	Thymus	Thymus
38	chr10:94365000-94385400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:94365000-94395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:94365200-94371200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:94365200-94372200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr10:94365600-94369400	Strong transcription	HUVEC	blood vessel
43	chr10:94365600-94379400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:94365600-94390600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
46	chr10:94365800-94370000	Strong transcription	HepG2	liver
47	chr10:94365800-94382600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr10:94365800-94390400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:94366000-94370000	Strong transcription	Fetal Muscle Leg	muscle
50	chr10:94366000-94370400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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