Variant report

Variant	rs12287998
Chromosome Location	chr11:46575394-46575395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46567197..46569440-chr11:46572838..46575780,2	K562	blood:
2	chr11:46574681..46577552-chr11:46580209..46581969,4	K562	blood:
3	chr11:46574167..46575813-chr11:46579097..46582050,2	MCF-7	breast:
4	chr11:46571213..46573722-chr11:46574368..46578173,3	K562	blood:
5	chr11:46571794..46573722-chr11:46574368..46577233,2	K562	blood:
6	chr11:46574208..46579341-chr11:46636969..46640425,5	MCF-7	breast:
7	chr11:46563603..46565464-chr11:46572756..46575750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110497	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11038975	1.00[MEX][hapmap]
rs11822837	1.00[CEU][hapmap]
rs12576204	1.00[MEX][hapmap]
rs12797858	1.00[CEU][hapmap]
rs35569076	1.00[MEX][hapmap]
rs7952678	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46559400-46575400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46565000-46579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:46566000-46579200	Weak transcription	Fetal Heart	heart
4	chr11:46567400-46576200	Weak transcription	Aorta	Aorta
5	chr11:46567400-46579000	Weak transcription	Pancreas	Pancrea
6	chr11:46567400-46579200	Weak transcription	Gastric	stomach
7	chr11:46567800-46576200	Weak transcription	Colonic Mucosa	Colon
8	chr11:46568000-46576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:46568200-46575400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:46568200-46575400	Weak transcription	Fetal Kidney	kidney
11	chr11:46568800-46575400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:46568800-46576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46568800-46579000	Weak transcription	Lung	lung
14	chr11:46568800-46582200	Weak transcription	Fetal Stomach	stomach
15	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:46569000-46576400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:46569000-46579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:46569000-46579200	Weak transcription	Esophagus	oesophagus
20	chr11:46569000-46579200	Weak transcription	Spleen	Spleen
21	chr11:46569200-46576200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46569200-46576400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:46569400-46575400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:46569400-46575400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:46569400-46576000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:46569400-46576200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:46569400-46576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:46569600-46575400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:46569600-46581400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:46569800-46575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:46569800-46575400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:46569800-46575400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:46569800-46581400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:46570000-46575400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:46570000-46576800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:46570000-46581800	Weak transcription	Thymus	Thymus
37	chr11:46570000-46582000	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:46570000-46582600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:46570200-46575400	Weak transcription	Fetal Lung	lung
40	chr11:46570600-46575400	Weak transcription	Primary B cells from cord blood	blood
41	chr11:46574200-46575400	Enhancers	HepG2	liver
42	chr11:46574400-46577000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:46574600-46575400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:46574600-46575400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:46574600-46575600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:46574600-46577400	Enhancers	Placenta	Placenta
47	chr11:46574600-46578000	Enhancers	Fetal Intestine Large	intestine
48	chr11:46574600-46578200	Enhancers	Fetal Intestine Small	intestine
49	chr11:46574800-46575400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:46574800-46575600	Flanking Active TSS	Hela-S3	cervix

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