Variant report

Variant	rs11917637
Chromosome Location	chr3:53368723-53368724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:53368648-53369123	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53368645..53370641-chr3:53389075..53391767,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207109	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11922512	1.00[AMR][1000 genomes]
rs17030962	1.00[AMR][1000 genomes]
rs17053107	1.00[AMR][1000 genomes]
rs17053120	1.00[AMR][1000 genomes]
rs2109183	1.00[AMR][1000 genomes]
rs57244620	1.00[AMR][1000 genomes]
rs72957240	1.00[AMR][1000 genomes]
rs72957241	1.00[AMR][1000 genomes]
rs72957261	1.00[AMR][1000 genomes]
rs7635797	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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
3	chr3:53346000-53373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:53346400-53370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
7	chr3:53347200-53371400	Weak transcription	HMEC	breast
8	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
9	chr3:53353000-53374600	Weak transcription	Fetal Brain Female	brain
10	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:53353400-53377000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:53354000-53371400	Weak transcription	NHEK	skin
13	chr3:53355400-53371600	Weak transcription	HSMMtube	muscle
14	chr3:53358200-53378800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:53358400-53380600	Weak transcription	Lung	lung
16	chr3:53358600-53370200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:53358600-53371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:53358600-53372200	Weak transcription	Pancreas	Pancrea
19	chr3:53358800-53376200	Weak transcription	K562	blood
20	chr3:53360000-53372800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:53360000-53374000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:53360400-53376400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:53360600-53380400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:53360800-53375800	Weak transcription	Aorta	Aorta
25	chr3:53360800-53380600	Weak transcription	Gastric	stomach
26	chr3:53361200-53371200	Weak transcription	Psoas Muscle	Psoas
27	chr3:53361400-53380200	Weak transcription	Colonic Mucosa	Colon
28	chr3:53361600-53379000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:53362600-53376200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:53362600-53376400	Weak transcription	Stomach Mucosa	stomach
31	chr3:53362800-53369000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:53362800-53378200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:53362800-53380400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:53363200-53374000	Weak transcription	NHLF	lung
35	chr3:53363200-53375200	Weak transcription	Ovary	ovary
36	chr3:53363200-53376600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:53363200-53378400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:53363200-53380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:53363400-53371200	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:53363400-53373000	Weak transcription	GM12878-XiMat	blood
41	chr3:53363400-53380400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:53363600-53378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:53363800-53369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:53363800-53379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:53364200-53377800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:53364400-53378600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr3:53364600-53372600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:53364600-53376600	Weak transcription	Right Ventricle	heart
49	chr3:53365000-53378800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:53365200-53368800	Strong transcription	Fetal Thymus	thymus

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