Variant report

Variant	rs4794063
Chromosome Location	chr17:45804494-45804495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45795117..45799796-chr17:45800277..45805825,7	K562	blood:
2	chr17:45794472..45797390-chr17:45802070..45804514,2	MCF-7	breast:
3	chr17:45802061..45804962-chr17:45808106..45812082,3	K562	blood:

Variant related genes	Relation type
ENSG00000073861	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10445375	0.82[JPT][hapmap]
rs11079786	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079791	0.82[JPT][hapmap]
rs11655336	0.82[JPT][hapmap]
rs12451815	0.82[JPT][hapmap]
rs12950390	0.82[JPT][hapmap]
rs16947078	0.94[YRI][hapmap]
rs1989291	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793646	0.85[JPT][hapmap]
rs4794067	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58067360	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8071192	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
2	chr17:45799200-45810800	Weak transcription	Gastric	stomach
3	chr17:45799800-45804600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:45800000-45804600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45801200-45809800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:45802200-45806200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:45803000-45805600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:45803400-45804600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:45803400-45805400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr17:45803600-45804600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:45803600-45805400	Enhancers	Fetal Muscle Leg	muscle
12	chr17:45803800-45805200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:45804000-45804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:45804000-45805200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr17:45804200-45804600	Enhancers	Spleen	Spleen
16	chr17:45804200-45804800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:45804200-45805000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:45804200-45805200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:45804400-45804800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:45804400-45805000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:45804400-45805000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:45804400-45805200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45804400-45805200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:45804400-45805600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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