Variant report

Variant	rs12243009
Chromosome Location	chr10:94390555-94390556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94389206..94391321-chr10:94393095..94394615,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187110	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11187111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187112	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11187118	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11187126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11187131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11187132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12240557	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12247024	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12251379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12252836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12254289	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12254474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12256435	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12257072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12258463	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12262063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12262390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12263166	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 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	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:94362000-94399800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
6	chr10:94364000-94390600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:94364000-94416400	Strong transcription	Dnd41	blood
8	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:94364400-94403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
11	chr10:94365000-94395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:94365600-94390600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
14	chr10:94366000-94390600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:94366000-94409600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:94366200-94390600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:94366800-94390600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:94367200-94411400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:94367400-94394000	Weak transcription	Fetal Intestine Large	intestine
20	chr10:94367400-94399600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:94371000-94408600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:94371000-94414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
24	chr10:94371600-94390600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr10:94371800-94408800	Weak transcription	Fetal Brain Female	brain
26	chr10:94373600-94399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:94374800-94393000	Weak transcription	NHEK	skin
28	chr10:94374800-94410400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:94374800-94416000	Weak transcription	Placenta	Placenta
30	chr10:94374800-94418600	Weak transcription	Brain Germinal Matrix	brain
31	chr10:94375000-94391800	Weak transcription	NH-A	brain
32	chr10:94376200-94403600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:94379400-94401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:94380200-94390600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:94380200-94390600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:94381400-94395000	Weak transcription	NHDF-Ad	bronchial
37	chr10:94382000-94396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:94382000-94399000	Weak transcription	Fetal Intestine Small	intestine
39	chr10:94382800-94391000	Weak transcription	Ovary	ovary
40	chr10:94383000-94394400	Weak transcription	K562	blood
41	chr10:94383000-94414600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:94384000-94414200	Weak transcription	Primary T cells from cord blood	blood
43	chr10:94384000-94416400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:94384400-94391800	Weak transcription	HepG2	liver
45	chr10:94384400-94403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:94384800-94394000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr10:94385800-94392000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:94386400-94390600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:94386400-94393200	Weak transcription	HSMM	muscle
50	chr10:94387400-94396200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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