Variant report

Variant	rs10491989
Chromosome Location	chr12:11893355-11893356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1009951	0.89[LWK][hapmap];0.87[YRI][hapmap]
rs10491988	1.00[AMR][1000 genomes]
rs11054431	1.00[AMR][1000 genomes]
rs12303444	1.00[AMR][1000 genomes]
rs12310333	1.00[AMR][1000 genomes]
rs13377661	1.00[AMR][1000 genomes]
rs55682120	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:11873400-11894200	Weak transcription	NHLF	lung
4	chr12:11880400-11896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:11880600-11896400	Weak transcription	Fetal Stomach	stomach
6	chr12:11882400-11899200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:11882400-11902600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:11882400-11903200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:11883200-11894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:11883600-11894000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:11883600-11896200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:11883800-11906000	Weak transcription	Liver	Liver
13	chr12:11884000-11894000	Weak transcription	Right Atrium	heart
14	chr12:11884000-11894200	Weak transcription	Psoas Muscle	Psoas
15	chr12:11884200-11896200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:11884200-11899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:11884800-11893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:11885200-11894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:11885200-11894200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:11885200-11894200	Weak transcription	Osteobl	bone
21	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:11885600-11894200	Weak transcription	Esophagus	oesophagus
23	chr12:11885600-11898600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:11885600-11899000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
26	chr12:11885800-11893800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:11885800-11893800	Weak transcription	HMEC	breast
28	chr12:11885800-11894200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:11885800-11894200	Weak transcription	Gastric	stomach
30	chr12:11885800-11896800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:11885800-11898400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:11886000-11894200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:11886000-11900000	Weak transcription	Colonic Mucosa	Colon
35	chr12:11886800-11897800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:11887400-11894200	Weak transcription	Fetal Intestine Small	intestine
37	chr12:11887800-11896400	Weak transcription	Dnd41	blood
38	chr12:11888200-11893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:11888200-11894200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:11888400-11893800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:11888600-11894200	Weak transcription	Pancreas	Pancrea
42	chr12:11889800-11896800	Weak transcription	Fetal Kidney	kidney
43	chr12:11889800-11901800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:11890000-11893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:11890000-11902400	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:11890200-11894200	Weak transcription	Lung	lung
47	chr12:11890200-11894200	Weak transcription	Spleen	Spleen
48	chr12:11890200-11894400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:11890400-11894200	Weak transcription	Left Ventricle	heart
50	chr12:11891200-11893800	Weak transcription	HUVEC	blood vessel

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