Variant report

Variant	rs11832649
Chromosome Location	chr12:117363580-117363581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117363015..117363893-chr9:114658260..114659021,2	Hela-S3	cervix:
2	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
3	chr12:117356736..117358510-chr12:117362462..117364060,2	MCF-7	breast:
4	chr12:117171214..117173165-chr12:117362456..117365349,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11068269	1.00[CEU][hapmap]
rs11829895	1.00[CEU][hapmap]
rs11830219	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835474	1.00[CEU][hapmap]
rs1320027	1.00[CEU][hapmap]
rs16947216	1.00[CEU][hapmap]
rs16947228	1.00[CEU][hapmap]
rs16947235	1.00[CEU][hapmap]
rs36021180	0.88[AFR][1000 genomes]
rs3935958	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs3956801	1.00[AMR][1000 genomes]
rs55693524	1.00[AMR][1000 genomes]
rs56721166	1.00[AMR][1000 genomes]
rs61563045	1.00[AMR][1000 genomes]
rs7964659	1.00[CEU][hapmap]
rs7980519	1.00[CEU][hapmap]
rs937567	1.00[CEU][hapmap]
rs952934	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
6	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
14	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
17	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
19	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
20	chr12:117351200-117363800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:117352400-117364200	Weak transcription	Fetal Stomach	stomach
22	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
23	chr12:117355600-117365400	Weak transcription	Lung	lung
24	chr12:117356600-117364000	Weak transcription	Ovary	ovary
25	chr12:117357000-117365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:117357200-117364400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:117357200-117365400	Weak transcription	Placenta	Placenta
28	chr12:117357200-117365600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:117357400-117365400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:117357600-117363600	Weak transcription	Right Atrium	heart
32	chr12:117357600-117365000	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
34	chr12:117358000-117366000	Weak transcription	Liver	Liver
35	chr12:117358400-117365600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:117358400-117366000	Weak transcription	Fetal Intestine Large	intestine
37	chr12:117358400-117366000	Weak transcription	Fetal Kidney	kidney
38	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
39	chr12:117358600-117363600	Weak transcription	Fetal Brain Female	brain
40	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:117358600-117365200	Weak transcription	Pancreas	Pancrea
43	chr12:117358600-117366000	Weak transcription	Fetal Intestine Small	intestine
44	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
45	chr12:117359000-117364800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:117359000-117364800	Weak transcription	Psoas Muscle	Psoas
47	chr12:117359000-117365400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:117359400-117366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:117360600-117363600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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