Variant report

Variant	rs12104871
Chromosome Location	chr2:182763987-182763988
allele	A/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	chr2:182763435-182765402	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:182763466-182771179	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:182763329-182768408	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:182763191-182774379	K562	blood:	n/a	n/a
6	SPI1	chr2:182763879-182764360	HL-60	blood:	n/a	chr2:182764104-182764117 chr2:182764107-182764116

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
ENSG00000265129	Chromatin interaction
ENSG00000221023	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1196182	1.00[AMR][1000 genomes]
rs12104879	1.00[AMR][1000 genomes]
rs2701674	1.00[AMR][1000 genomes]
rs6715799	1.00[AFR][1000 genomes];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	chr2:182757600-182764200	Weak transcription	Gastric	stomach
2	chr2:182757600-182764200	Weak transcription	Spleen	Spleen
3	chr2:182757800-182764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:182757800-182764200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:182757800-182764200	Weak transcription	Pancreas	Pancrea
6	chr2:182757800-182766400	Weak transcription	Lung	lung
7	chr2:182757800-182779400	Weak transcription	Esophagus	oesophagus
8	chr2:182757800-182779800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:182758000-182764000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:182758000-182764000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:182758000-182765800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:182758000-182780000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:182758200-182764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:182758200-182779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:182758200-182780200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:182758400-182764200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:182758400-182764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:182758400-182766800	Weak transcription	Fetal Brain Female	brain
21	chr2:182759000-182764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:182759000-182764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:182759200-182764000	Enhancers	Brain Substantia Nigra	brain
24	chr2:182759200-182764000	Weak transcription	Left Ventricle	heart
25	chr2:182759200-182766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:182759400-182764000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:182759400-182764400	Weak transcription	Thymus	Thymus
29	chr2:182759400-182764800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:182759600-182764200	Weak transcription	Right Ventricle	heart
31	chr2:182759600-182764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:182759600-182764400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:182759600-182764800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:182759600-182779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:182759600-182782000	Strong transcription	HSMM	muscle
36	chr2:182759800-182764200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
39	chr2:182760600-182764600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:182760600-182764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:182760600-182764800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:182760800-182764200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:182760800-182764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:182760800-182764400	Weak transcription	Small Intestine	intestine
45	chr2:182760800-182777000	Strong transcription	Osteobl	bone
46	chr2:182760800-182787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:182761000-182766600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:182761200-182765200	Genic enhancers	HUVEC	blood vessel
49	chr2:182761200-182772200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:182761400-182767400	Weak transcription	Psoas Muscle	Psoas

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