Variant report

Variant	rs10491988
Chromosome Location	chr12:11886591-11886592
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11885204..11886814-chr12:11889100..11890983,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491989	1.00[AMR][1000 genomes]
rs11054431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303444	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310333	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377661	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051525	0.86[YRI][hapmap]
rs2710267	1.00[EUR][1000 genomes]
rs2724598	1.00[EUR][1000 genomes]
rs2724602	1.00[EUR][1000 genomes]
rs2724637	1.00[EUR][1000 genomes]
rs2856340	1.00[EUR][1000 genomes]
rs55682120	1.00[AMR][1000 genomes]
rs57222202	1.00[EUR][1000 genomes]
rs59302227	1.00[EUR][1000 genomes]
rs7133092	1.00[EUR][1000 genomes]
rs7302827	1.00[EUR][1000 genomes]
rs7307437	1.00[EUR][1000 genomes]
rs73288792	1.00[EUR][1000 genomes]
rs74060832	1.00[AMR][1000 genomes]
rs74060834	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:75 , 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	chr12:11875000-11888600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:11877400-11886600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:11878000-11888600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:11878000-11889600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:11880400-11896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:11880600-11896400	Weak transcription	Fetal Stomach	stomach
10	chr12:11880800-11890800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:11882200-11888400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:11882400-11899200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:11882400-11902600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:11882400-11903200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:11883200-11894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:11883600-11889600	Weak transcription	Fetal Kidney	kidney
17	chr12:11883600-11891400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:11883600-11891400	Weak transcription	Right Ventricle	heart
19	chr12:11883600-11894000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:11883600-11896200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:11883800-11906000	Weak transcription	Liver	Liver
22	chr12:11884000-11894000	Weak transcription	Right Atrium	heart
23	chr12:11884000-11894200	Weak transcription	Psoas Muscle	Psoas
24	chr12:11884200-11896200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:11884200-11899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:11884800-11887800	Genic enhancers	Fetal Thymus	thymus
27	chr12:11884800-11893800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:11885000-11886600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:11885000-11886800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:11885000-11887800	Strong transcription	Dnd41	blood
31	chr12:11885000-11889600	Weak transcription	Spleen	Spleen
32	chr12:11885200-11889600	Weak transcription	Left Ventricle	heart
33	chr12:11885200-11890400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:11885200-11891400	Weak transcription	NHEK	skin
35	chr12:11885200-11891600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:11885200-11894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:11885200-11894200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:11885200-11894200	Weak transcription	Osteobl	bone
39	chr12:11885200-11906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:11885400-11886800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:11885400-11887400	Strong transcription	Fetal Intestine Small	intestine
42	chr12:11885400-11891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:11885600-11886800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:11885600-11892000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:11885600-11894200	Weak transcription	Esophagus	oesophagus
46	chr12:11885600-11898600	Weak transcription	Primary T cells from cord blood	blood
47	chr12:11885600-11899000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:11885600-11905200	Weak transcription	Fetal Intestine Large	intestine
49	chr12:11885800-11886600	Weak transcription	Thymus	Thymus
50	chr12:11885800-11887200	Weak transcription	Small Intestine	intestine

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