Variant report

Variant	rs7129470
Chromosome Location	chr11:73376595-73376596
allele	G/T
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	chr11:73376590-73376651	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:73376277-73376727	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:73375579-73377582	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73112653..73117037-chr11:73375086..73378284,4	MCF-7	breast:
2	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
3	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
4	chr11:73371041..73372952-chr11:73376507..73379068,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252732	TF binding region
ENSG00000021300	Chromatin interaction
ENSG00000256448	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12269892	0.82[JPT][hapmap]
rs12575532	0.88[JPT][hapmap]
rs17132305	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
3	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:73372600-73383000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73372600-73384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:73372600-73385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:73372600-73385200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:73372600-73385200	Weak transcription	Liver	Liver
9	chr11:73372600-73385200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:73372600-73385400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:73372600-73385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:73372600-73388400	Weak transcription	Dnd41	blood
15	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
16	chr11:73372800-73381200	Weak transcription	Fetal Stomach	stomach
17	chr11:73372800-73382000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:73372800-73382600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:73372800-73382800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73372800-73385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73372800-73385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:73372800-73385400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:73372800-73388400	Weak transcription	NHLF	lung
24	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel
25	chr11:73373400-73388200	Weak transcription	Fetal Thymus	thymus
26	chr11:73373800-73376600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73373800-73377000	Enhancers	Adipose Nuclei	Adipose
28	chr11:73374000-73377000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:73374000-73377200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:73374200-73379000	Weak transcription	K562	blood
31	chr11:73374200-73385400	Weak transcription	Osteobl	bone
32	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
33	chr11:73374400-73376600	Enhancers	Spleen	Spleen
34	chr11:73374400-73377000	Enhancers	Psoas Muscle	Psoas
35	chr11:73374400-73427200	Weak transcription	A549	lung
36	chr11:73374800-73388800	Weak transcription	GM12878-XiMat	blood
37	chr11:73375000-73376600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:73375000-73377200	Enhancers	Left Ventricle	heart
39	chr11:73375200-73385000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:73375200-73385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:73375200-73385200	Weak transcription	Thymus	Thymus
42	chr11:73375200-73385400	Weak transcription	Fetal Intestine Small	intestine
43	chr11:73375200-73387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:73375200-73388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:73375200-73388400	Weak transcription	Fetal Lung	lung
46	chr11:73375200-73388800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:73375400-73384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:73375400-73385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:73375400-73385200	Weak transcription	Aorta	Aorta

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