Variant report

Variant	rs11695458
Chromosome Location	chr2:182779559-182779560
allele	C/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	chr2:182779336-182781794	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:182779399-182781454	HCT-116	colon:	n/a	n/a
3	POLR2A	chr2:182778854-182784341	HCT-116	colon:	n/a	n/a
4	FOS	chr2:182779479-182779846	HUVEC	blood vessel:	n/a	chr2:182779668-182779679
5	POLR2A	chr2:182779182-182784349	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:182774475..182776791-chr2:182778297..182781131,4	MCF-7	breast:
2	chr2:182777511..182779928-chr2:182940504..182943969,3	MCF-7	breast:
3	chr2:182778913..182780583-chr2:182786458..182788567,2	K562	blood:

Variant related genes	Relation type
SSFA2	TF binding region
ENSG00000138434	Chromatin interaction

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

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

rs_ID	r²[population]
rs17647806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182757800-182779800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:182758000-182780000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:182758200-182779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:182758200-182780200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:182759600-182779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:182759600-182782000	Strong transcription	HSMM	muscle
10	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
12	chr2:182760800-182787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
14	chr2:182762000-182780000	Weak transcription	Fetal Heart	heart
15	chr2:182764600-182786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:182765200-182780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:182767000-182779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:182767200-182783200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:182767600-182780000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:182768000-182779600	Weak transcription	Ovary	ovary
21	chr2:182768000-182780000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:182768200-182779600	Weak transcription	Lung	lung
23	chr2:182768200-182779600	Weak transcription	Psoas Muscle	Psoas
24	chr2:182768200-182787800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:182768400-182779800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:182769400-182795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:182769600-182795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:182769600-182795800	Strong transcription	Dnd41	blood
29	chr2:182771600-182779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:182772400-182790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:182773600-182780800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:182774000-182780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:182774000-182781400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:182774000-182790800	Strong transcription	HMEC	breast
35	chr2:182774200-182780600	Strong transcription	NHLF	lung
36	chr2:182774200-182780800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:182774200-182781000	Strong transcription	NHDF-Ad	bronchial
38	chr2:182774600-182780600	Strong transcription	NHEK	skin
39	chr2:182774600-182787400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:182774600-182788400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:182774600-182795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:182774800-182780800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:182775000-182788800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:182775800-182779600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:182775800-182792200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:182775800-182792600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:182775800-182795800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:182775800-182795800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:182776000-182795800	Strong transcription	Hela-S3	cervix
50	chr2:182776200-182793200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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