Variant report

Variant	rs12249288
Chromosome Location	chr10:94298551-94298552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94298511..94300271-chr10:94332485..94335171,2	K562	blood:
2	chr10:94296180..94299148-chr10:94301108..94303166,2	K562	blood:
3	chr10:94298414..94300785-chr10:94332652..94334506,2	MCF-7	breast:
4	chr10:94296964..94298851-chr10:94300290..94303275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12264361	0.89[AFR][1000 genomes]
rs12264682	0.83[AFR][1000 genomes]
rs12266443	0.85[AFR][1000 genomes]
rs74151643	0.83[AFR][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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94244000-94303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
3	chr10:94250400-94301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
5	chr10:94252600-94302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
9	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:94268000-94313800	Weak transcription	NHLF	lung
11	chr10:94268600-94300000	Weak transcription	Colonic Mucosa	Colon
12	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
13	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:94272200-94298600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:94272200-94313800	Weak transcription	HSMMtube	muscle
17	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:94272200-94332200	Weak transcription	Gastric	stomach
19	chr10:94272400-94313600	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:94272800-94313200	Weak transcription	Fetal Brain Female	brain
21	chr10:94274400-94303400	Weak transcription	HMEC	breast
22	chr10:94276800-94304000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr10:94277000-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:94277200-94303000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr10:94277200-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:94277200-94313800	Weak transcription	Brain Angular Gyrus	brain
27	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
28	chr10:94277400-94304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:94287200-94303600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr10:94287400-94298600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:94289600-94313200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:94289800-94300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:94289800-94303600	Weak transcription	NHEK	skin
35	chr10:94290400-94300000	Weak transcription	Ovary	ovary
36	chr10:94290400-94318800	Weak transcription	Right Ventricle	heart
37	chr10:94290800-94313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:94291400-94313800	Weak transcription	HSMM	muscle
39	chr10:94292800-94313800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:94294000-94313400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:94294400-94313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:94294600-94307200	Weak transcription	A549	lung
43	chr10:94294600-94313800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr10:94294800-94313600	Weak transcription	NHDF-Ad	bronchial
45	chr10:94295000-94313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:94295400-94302600	Weak transcription	Primary T cells from cord blood	blood
47	chr10:94295400-94303000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr10:94295400-94303600	Weak transcription	Fetal Thymus	thymus
49	chr10:94295400-94303800	Weak transcription	Primary B cells from cord blood	blood
50	chr10:94295400-94318000	Weak transcription	NH-A	brain

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