Variant report

Variant	rs4617422
Chromosome Location	chr1:161036472-161036473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161035244..161038070-chr1:161039157..161043697,5	MCF-7	breast:
2	chr1:161030433..161032581-chr1:161036169..161038406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186517	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12036299	0.81[AMR][1000 genomes]
rs1556259	1.00[CEU][hapmap]
rs1556260	1.00[CEU][hapmap]
rs16832617	0.87[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1974140	0.82[AMR][1000 genomes]
rs2073653	1.00[CEU][hapmap]
rs6427573	1.00[CEU][hapmap]
rs6660240	0.83[AMR][1000 genomes]
rs6686076	1.00[CEU][hapmap]
rs7516231	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4617422	TSTD1	cis	Lymphoblastoid	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
2	chr1:161021600-161038400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:161024800-161038200	Weak transcription	Lung	lung
4	chr1:161026400-161039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:161026600-161036600	Weak transcription	Placenta	Placenta
6	chr1:161027400-161037800	Weak transcription	Esophagus	oesophagus
7	chr1:161029200-161036600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:161029800-161038000	Weak transcription	Stomach Mucosa	stomach
9	chr1:161030000-161036800	Weak transcription	Spleen	Spleen
10	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:161032400-161036600	Weak transcription	Thymus	Thymus
12	chr1:161034000-161037000	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:161034000-161037600	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr1:161035000-161036600	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:161035000-161038400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:161035800-161036800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
17	chr1:161035800-161037600	Genic enhancers	Fetal Thymus	thymus
18	chr1:161035800-161038000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
19	chr1:161036000-161036800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
20	chr1:161036000-161036800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
21	chr1:161036000-161037000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:161036000-161037000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:161036000-161037000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr1:161036000-161037400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:161036000-161037800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
26	chr1:161036000-161038000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:161036000-161038000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:161036000-161038200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr1:161036200-161037000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:161036200-161037000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
31	chr1:161036200-161037400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:161036400-161036600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:161036400-161036800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
34	chr1:161036400-161036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:161036400-161036800	Enhancers	Adipose Nuclei	Adipose
36	chr1:161036400-161036800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:161036400-161037000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
38	chr1:161036400-161037000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:161036400-161037000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:161036400-161037000	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr1:161036400-161037200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:161036400-161038200	Flanking Active TSS	Primary T cells from cord blood	blood

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