Variant report

Variant	rs2151532
Chromosome Location	chr6:132274730-132274731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:132273360-132274782	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:132274648-132274848	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:132274317-132274756	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	chr6:132271217..132273404-chr6:132274488..132276849,3	MCF-7	breast:
4	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
5	chr6:132258659..132260854-chr6:132273707..132276413,2	MCF-7	breast:
6	chr6:132269202..132270908-chr6:132273565..132275106,2	K562	blood:
7	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo
8	chr6:132267661..132270046-chr6:132272671..132275196,2	MCF-7	breast:
9	chr6:132270832..132274014-chr6:132274409..132278281,8	MCF-7	breast:

No data

Variant related genes	Relation type
CTGF	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000228495	Chromatin interaction
ENSG00000227220	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000118523	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1931002	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4897555	0.92[CEU][hapmap]
rs7763896	0.85[CEU][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs9483363	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132272600-132275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:132272600-132276000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:132272600-132279400	Weak transcription	Pancreas	Pancrea
4	chr6:132272800-132274800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:132272800-132274800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:132272800-132277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:132273000-132274800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:132273000-132274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:132273000-132274800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:132273000-132275400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:132273000-132275600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:132273000-132275800	Enhancers	HSMM	muscle
13	chr6:132273000-132276000	Weak transcription	Right Ventricle	heart
14	chr6:132273000-132277200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:132273000-132277400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:132273000-132277400	Enhancers	Stomach Mucosa	stomach
17	chr6:132273000-132278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:132273000-132279400	Enhancers	HepG2	liver
19	chr6:132273200-132275200	Weak transcription	Adipose Nuclei	Adipose
20	chr6:132273200-132275200	Weak transcription	Colonic Mucosa	Colon
21	chr6:132273200-132275200	Enhancers	A549	lung
22	chr6:132273200-132275200	Enhancers	HUVEC	blood vessel
23	chr6:132273200-132275200	Enhancers	NH-A	brain
24	chr6:132273200-132275400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:132273200-132275600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:132273200-132275800	Enhancers	HSMMtube	muscle
27	chr6:132273200-132276800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:132273200-132276800	Enhancers	NHDF-Ad	bronchial
29	chr6:132273200-132277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:132273200-132277000	Enhancers	NHLF	lung
31	chr6:132273200-132277200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:132273200-132277400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:132273200-132277400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:132273400-132275000	Weak transcription	Hela-S3	cervix
35	chr6:132273400-132275200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:132273400-132275200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:132273400-132275400	Enhancers	Fetal Kidney	kidney
38	chr6:132273400-132275400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:132273400-132275400	Enhancers	Osteobl	bone
40	chr6:132273400-132275600	Enhancers	Fetal Heart	heart
41	chr6:132273400-132276600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:132273400-132276800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:132273600-132275200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:132273600-132275200	Weak transcription	Brain Substantia Nigra	brain
45	chr6:132273600-132275200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:132273600-132276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:132273800-132274800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr6:132273800-132275200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:132273800-132275200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:132273800-132275200	Weak transcription	Brain Cingulate Gyrus	brain

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