Variant report

Variant	rs10206357
Chromosome Location	chr2:190522765-190522766
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	ZNF143	chr2:190522634-190522815	GM12878	blood:	n/a	n/a
2	RCOR1	chr2:190522596-190523024	K562	blood:	n/a	n/a
3	SP1	chr2:190522538-190522898	GM12878	blood:	n/a	n/a
4	MAX	chr2:190522497-190522917	NB4	blood:	n/a	n/a
5	TEAD4	chr2:190522564-190522949	K562	blood:	n/a	chr2:190522784-190522793
6	PAX5	chr2:190522547-190522858	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:190522339-190522946	GM12878	blood:	n/a	n/a
8	GABPA	chr2:190522558-190522776	GM12878	blood:	n/a	n/a
9	WRNIP1	chr2:190522616-190522797	GM12878	blood:	n/a	n/a
10	RUNX3	chr2:190522375-190523051	GM12878	blood:	n/a	n/a
11	CHD2	chr2:190522742-190522774	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:190522604-190522820	GM12891	blood:	n/a	n/a
13	POU2F2	chr2:190522546-190522868	GM12891	blood:	n/a	n/a
14	GABPA	chr2:190522585-190522781	GM12878	blood:	n/a	n/a
15	SPI1	chr2:190522596-190522844	GM12891	blood:	n/a	n/a
16	ELF1	chr2:190522542-190522877	K562	blood:	n/a	n/a
17	ETS1	chr2:190522425-190522823	GM12878	blood:	n/a	n/a
18	RCOR1	chr2:190522608-190522999	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190515275..190516787-chr2:190520787..190523527,2	MCF-7	breast:

Variant related genes	Relation type
ASNSD1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10168297	1.00[AFR][1000 genomes]
rs10173868	0.82[AFR][1000 genomes]
rs10201819	0.82[AFR][1000 genomes]
rs10202658	1.00[AFR][1000 genomes]
rs10202808	1.00[AFR][1000 genomes]
rs10203086	0.82[AFR][1000 genomes]
rs13388478	0.82[AFR][1000 genomes]
rs13392056	0.82[AFR][1000 genomes]
rs13399776	0.82[AFR][1000 genomes]
rs13406080	0.82[AFR][1000 genomes]
rs13426218	0.81[AFR][1000 genomes]
rs13426721	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs28379024	0.82[AFR][1000 genomes]
rs5742958	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs5743125	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190514800-190525600	Weak transcription	NHLF	lung
2	chr2:190520000-190525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190520200-190526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190521800-190526000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:190522000-190523000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:190522200-190522800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:190522200-190523200	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:190522200-190523400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr2:190522200-190523600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:190522200-190523600	Enhancers	Thymus	Thymus
11	chr2:190522200-190523800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:190522200-190524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:190522200-190524000	Enhancers	Osteobl	bone
14	chr2:190522400-190523000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:190522400-190523000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:190522400-190523200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:190522400-190523400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:190522400-190523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:190522400-190523400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:190522400-190523400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr2:190522400-190523400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr2:190522400-190523400	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:190522400-190523400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:190522400-190523600	Enhancers	Fetal Lung	lung
25	chr2:190522400-190523600	Flanking Active TSS	Dnd41	blood
26	chr2:190522400-190523800	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:190522400-190523800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:190522400-190524000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:190522400-190524200	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:190522400-190524200	Enhancers	Fetal Thymus	thymus
31	chr2:190522600-190522800	Enhancers	Right Atrium	heart
32	chr2:190522600-190523000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:190522600-190523000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:190522600-190523000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:190522600-190523000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:190522600-190523200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:190522600-190523200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr2:190522600-190523200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:190522600-190523200	Enhancers	Fetal Heart	heart
40	chr2:190522600-190523400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:190522600-190523400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr2:190522600-190523400	Enhancers	NH-A	brain
43	chr2:190522600-190524000	Enhancers	Stomach Mucosa	stomach
44	chr2:190522600-190524200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr2:190522600-190524200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:190522600-190524400	Enhancers	Primary monocytes fromperipheralblood	blood

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