Variant report

Variant	rs7570077
Chromosome Location	chr2:112810808-112810809
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr2:112810766-112810998	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
2	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
3	chr2:112665558..112667722-chr2:112810644..112812668,2	K562	blood:
4	chr2:112809505..112811729-chr2:113340407..113342286,2	MCF-7	breast:
5	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
6	chr2:112804262..112806076-chr2:112808977..112811892,2	K562	blood:

No data

Variant related genes	Relation type
TMEM87B	TF binding region
ENSG00000153208	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000153107	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6713344	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112803200-112811200	Weak transcription	Fetal Stomach	stomach
2	chr2:112804400-112811000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:112804600-112811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:112805600-112811200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:112805600-112811200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:112805600-112811400	Weak transcription	Right Ventricle	heart
7	chr2:112805600-112811600	Weak transcription	Aorta	Aorta
8	chr2:112805600-112811600	Weak transcription	Gastric	stomach
9	chr2:112805800-112811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:112806000-112811400	Weak transcription	Right Atrium	heart
11	chr2:112806200-112811000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:112806200-112811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:112806400-112811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:112806400-112811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:112806400-112811000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:112806400-112811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:112806400-112811000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:112806400-112811000	Weak transcription	Fetal Heart	heart
19	chr2:112806400-112811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:112806400-112811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:112806400-112811200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:112807000-112811000	Weak transcription	NHDF-Ad	bronchial
23	chr2:112807600-112811400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:112807600-112811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:112807800-112811200	Weak transcription	Colonic Mucosa	Colon
26	chr2:112808200-112811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:112808600-112811000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:112808600-112811000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:112808600-112811200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:112808600-112811200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:112809400-112811600	Weak transcription	Pancreas	Pancrea
32	chr2:112810000-112811800	Weak transcription	Small Intestine	intestine
33	chr2:112810400-112811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:112810600-112811000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:112810600-112811400	Enhancers	Fetal Intestine Small	intestine
36	chr2:112810800-112811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:112810800-112811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:112810800-112811000	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:112810800-112811000	Enhancers	Dnd41	blood
40	chr2:112810800-112811000	Enhancers	K562	blood
41	chr2:112810800-112811200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:112810800-112811200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:112810800-112811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:112810800-112811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:112810800-112811400	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:112810800-112811400	Enhancers	Fetal Intestine Large	intestine
47	chr2:112810800-112811400	Flanking Active TSS	HepG2	liver

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