Variant report

Variant	rs11829961
Chromosome Location	chr12:56335883-56335884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56330972..56338064-chr12:56344899..56352450,13	MCF-7	breast:
2	chr12:56333047..56336022-chr12:56349677..56352067,3	K562	blood:
3	chr12:56229943..56232528-chr12:56333269..56336105,2	MCF-7	breast:
4	chr12:56334536..56336984-chr12:56364435..56366138,2	MCF-7	breast:
5	chr12:56211687..56216264-chr12:56332406..56336008,6	MCF-7	breast:
6	chr12:56334256..56336718-chr12:56359485..56361088,3	K562	blood:
7	chr12:56333191..56336155-chr12:56365028..56368008,4	K562	blood:
8	chr12:56335086..56337260-chr12:56350653..56352325,2	MCF-7	breast:
9	chr12:56335218..56337263-chr12:56359251..56361080,2	K562	blood:
10	chr12:56332717..56336094-chr12:56364167..56367444,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123374	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000065357	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11829187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833164	0.83[AMR][1000 genomes]
rs11838363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336393	0.83[AMR][1000 genomes]
rs73336399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56326400-56345000	Weak transcription	Ovary	ovary
2	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
3	chr12:56330000-56336000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:56330200-56336600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:56330400-56336000	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:56330400-56339200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:56330400-56339400	Strong transcription	Primary hematopoietic stem cells	blood
8	chr12:56332000-56339800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:56333800-56336400	Genic enhancers	Fetal Intestine Small	intestine
10	chr12:56334000-56336800	Genic enhancers	Primary T cells from cord blood	blood
11	chr12:56334000-56337200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:56334000-56345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:56334200-56340000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:56334200-56340200	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr12:56334200-56343600	Strong transcription	Primary B cells from cord blood	blood
17	chr12:56334200-56345400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:56334400-56336800	Strong transcription	Spleen	Spleen
20	chr12:56334400-56343600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:56334400-56343800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:56334400-56345000	Weak transcription	Left Ventricle	heart
23	chr12:56334400-56345200	Weak transcription	Lung	lung
24	chr12:56334400-56345400	Weak transcription	Liver	Liver
25	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
28	chr12:56334600-56336000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:56334600-56336000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr12:56334600-56336200	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:56334600-56336200	Weak transcription	K562	blood
32	chr12:56334600-56336800	Strong transcription	Colonic Mucosa	Colon
33	chr12:56334600-56336800	Strong transcription	Fetal Stomach	stomach
34	chr12:56334600-56337000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:56334600-56337000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:56334600-56337000	Strong transcription	NHLF	lung
37	chr12:56334600-56338200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr12:56334600-56339200	Strong transcription	GM12878-XiMat	blood
39	chr12:56334600-56339800	Strong transcription	Esophagus	oesophagus
40	chr12:56334600-56340000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:56334600-56340200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:56334600-56340200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:56334600-56340400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:56334600-56340600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:56334600-56340600	Strong transcription	Placenta	Placenta
46	chr12:56334600-56342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:56334600-56342600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:56334600-56343000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:56334600-56343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:56334600-56343400	Strong transcription	Primary B cells from peripheral blood	blood

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