Variant report

Variant	rs12104879
Chromosome Location	chr2:182764571-182764572
allele	C/G
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	chr2:182763688-182768258	HCT-116	colon:	n/a	n/a
2	POLR2A	chr2:182764298-182764635	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:182764158-182764679	HCT-116	colon:	n/a	n/a
4	POLR2A	chr2:182763435-182765402	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:182764186-182765328	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr2:182764204-182764711	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:182763466-182771179	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:182763329-182768408	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:182763191-182774379	K562	blood:	n/a	n/a
10	POLR2A	chr2:182764341-182764668	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:182753988..182769660-chr2:182938612..182954194,58	MCF-7	breast:
2	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
3	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:

Variant related genes	Relation type
SSFA2	TF binding region
ENSG00000221023	Chromatin interaction
ENSG00000265129	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10930983	1.00[AMR][1000 genomes]
rs1196182	1.00[AMR][1000 genomes]
rs12104871	1.00[AMR][1000 genomes]
rs2701674	1.00[AMR][1000 genomes]
rs6715799	1.00[AMR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182757800-182766400	Weak transcription	Lung	lung
2	chr2:182757800-182779400	Weak transcription	Esophagus	oesophagus
3	chr2:182757800-182779800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:182758000-182765800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:182758000-182780000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:182758200-182764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:182758200-182779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:182758200-182780200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:182758400-182766800	Weak transcription	Fetal Brain Female	brain
12	chr2:182759200-182766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:182759400-182764800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:182759600-182764800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:182759600-182779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:182759600-182782000	Strong transcription	HSMM	muscle
18	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
20	chr2:182760600-182764600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:182760600-182764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:182760600-182764800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:182760800-182777000	Strong transcription	Osteobl	bone
24	chr2:182760800-182787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:182761000-182766600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:182761200-182765200	Genic enhancers	HUVEC	blood vessel
27	chr2:182761200-182772200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:182761400-182767400	Weak transcription	Psoas Muscle	Psoas
29	chr2:182761400-182779400	Weak transcription	Fetal Stomach	stomach
30	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
31	chr2:182761600-182768400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:182761600-182771600	Strong transcription	NHDF-Ad	bronchial
33	chr2:182761800-182767000	Strong transcription	HMEC	breast
34	chr2:182761800-182768000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:182762000-182764800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:182762000-182766000	Genic enhancers	Dnd41	blood
37	chr2:182762000-182767600	Genic enhancers	Hela-S3	cervix
38	chr2:182762000-182779400	Weak transcription	Aorta	Aorta
39	chr2:182762000-182780000	Weak transcription	Fetal Heart	heart
40	chr2:182762200-182765400	Weak transcription	A549	lung
41	chr2:182762200-182775000	Weak transcription	Colonic Mucosa	Colon
42	chr2:182762600-182769800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:182762800-182765200	Genic enhancers	Fetal Intestine Large	intestine
44	chr2:182762800-182766600	Strong transcription	NHEK	skin
45	chr2:182763000-182766800	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:182763200-182765000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:182763200-182767800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:182763200-182768800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:182763200-182769800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:182763400-182767400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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