Variant report

Variant	rs12611710
Chromosome Location	chr2:10081155-10081156
allele	A/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	chr2:10080832-10081290	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:10080988-10081455	A549	lung:	n/a	n/a
3	MAX	chr2:10081146-10081255	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
2	chr2:10079779..10081937-chr2:10082992..10085179,2	MCF-7	breast:
3	chr2:10075342..10078182-chr2:10080340..10082783,2	K562	blood:
4	chr2:10058951..10060878-chr2:10081099..10082615,2	K562	blood:

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000269973	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10211204	0.83[ASN][1000 genomes]
rs13009548	0.81[ASN][1000 genomes]
rs16867245	0.86[EUR][1000 genomes]
rs4668659	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669503	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4669505	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9752674	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10038600-10081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10049600-10081200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:10055000-10081800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:10059400-10081200	Weak transcription	GM12878-XiMat	blood
5	chr2:10073400-10081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:10073400-10084400	Weak transcription	Lung	lung
7	chr2:10073600-10088800	Weak transcription	Spleen	Spleen
8	chr2:10073800-10082000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:10074000-10081800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:10074200-10081800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:10075600-10082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:10075800-10081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:10075800-10081600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:10075800-10081600	Weak transcription	Placenta	Placenta
15	chr2:10076000-10081400	Weak transcription	Fetal Thymus	thymus
16	chr2:10076000-10081600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:10078200-10081400	Weak transcription	A549	lung
18	chr2:10079200-10082400	Enhancers	Fetal Lung	lung
19	chr2:10079600-10081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:10079600-10082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:10079800-10081600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:10079800-10082000	Enhancers	Stomach Mucosa	stomach
23	chr2:10079800-10082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:10079800-10082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:10080000-10081200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:10080000-10081200	Enhancers	Osteobl	bone
27	chr2:10080000-10081800	Weak transcription	K562	blood
28	chr2:10080000-10082200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:10080200-10081200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:10080200-10082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:10080400-10081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:10080400-10081800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:10080600-10081200	Enhancers	Esophagus	oesophagus
34	chr2:10080600-10081600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:10080600-10081800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:10080600-10082400	Enhancers	Gastric	stomach
37	chr2:10080600-10082600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:10080800-10081200	Enhancers	Fetal Intestine Small	intestine
39	chr2:10080800-10081200	Enhancers	Pancreas	Pancrea
40	chr2:10080800-10081200	Enhancers	NH-A	brain
41	chr2:10080800-10081400	Enhancers	Hela-S3	cervix
42	chr2:10080800-10081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:10080800-10081800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:10080800-10082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:10080800-10082000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:10080800-10082000	Enhancers	HMEC	breast
47	chr2:10080800-10082000	Enhancers	NHLF	lung
48	chr2:10080800-10082200	Enhancers	NHDF-Ad	bronchial
49	chr2:10080800-10082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:10080800-10082600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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