Variant report

Variant	rs17161199
Chromosome Location	chr7:139575458-139575459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139574219..139575833-chr7:139617525..139620392,2	K562	blood:
2	chr7:139574689..139577649-chr7:139580530..139584809,4	K562	blood:
3	chr7:139574219..139576621-chr7:139617525..139620344,2	K562	blood:
4	chr7:139568957..139570819-chr7:139574917..139577389,2	MCF-7	breast:
5	chr7:139548143..139550400-chr7:139575371..139578178,2	K562	blood:
6	chr7:139569773..139572484-chr7:139574430..139577098,5	K562	blood:
7	chr7:139573813..139576189-chr7:139580530..139582169,2	K562	blood:
8	chr7:139570208..139572010-chr7:139574757..139577098,3	K562	blood:

No data

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17161175	1.00[EUR][1000 genomes]
rs17161190	1.00[EUR][1000 genomes]
rs17161194	1.00[EUR][1000 genomes]
rs17161198	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17161200	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161201	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161202	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1859568	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs55723240	1.00[EUR][1000 genomes]
rs56380154	1.00[EUR][1000 genomes]
rs56847881	1.00[EUR][1000 genomes]
rs58206741	1.00[EUR][1000 genomes]
rs59134510	1.00[EUR][1000 genomes]
rs59445537	1.00[EUR][1000 genomes]
rs60560151	1.00[EUR][1000 genomes]
rs73734120	1.00[EUR][1000 genomes]
rs73734125	1.00[EUR][1000 genomes]
rs73734133	1.00[EUR][1000 genomes]
rs9886179	0.90[EUR][1000 genomes]
rs9886217	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139569800-139575600	Weak transcription	Small Intestine	intestine
3	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:139570600-139575600	Weak transcription	Gastric	stomach
5	chr7:139570800-139575600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:139571600-139575600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:139571600-139577200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:139571600-139582400	Weak transcription	Colonic Mucosa	Colon
10	chr7:139571800-139584000	Weak transcription	Fetal Kidney	kidney
11	chr7:139572000-139576600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:139572000-139576600	Weak transcription	Osteobl	bone
13	chr7:139572000-139577400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:139572000-139577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:139572000-139579800	Weak transcription	NH-A	brain
16	chr7:139572200-139575800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:139572200-139576000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:139572200-139576600	Weak transcription	NHLF	lung
19	chr7:139573200-139575600	Weak transcription	Right Ventricle	heart
20	chr7:139573400-139575600	Weak transcription	Left Ventricle	heart
21	chr7:139573400-139576800	Weak transcription	Lung	lung
22	chr7:139573600-139575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:139573600-139586600	Weak transcription	Right Atrium	heart
24	chr7:139573800-139575600	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:139573800-139575800	Weak transcription	K562	blood
26	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:139574000-139575600	Weak transcription	Adipose Nuclei	Adipose
28	chr7:139574200-139575600	Weak transcription	Psoas Muscle	Psoas
29	chr7:139574200-139575600	Weak transcription	HUVEC	blood vessel
30	chr7:139574400-139575600	Weak transcription	Thymus	Thymus
31	chr7:139574600-139575600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:139574800-139575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:139574800-139575600	Weak transcription	Spleen	Spleen
34	chr7:139575000-139575600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:139575200-139576000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:139575200-139576800	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:139575400-139575600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:139575400-139575600	Enhancers	Duodenum Mucosa	Duodenum
39	chr7:139575400-139575800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr7:139575400-139576200	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:139575400-139576200	Enhancers	Liver	Liver
42	chr7:139575400-139577200	Strong transcription	Fetal Thymus	thymus
43	chr7:139575400-139577200	Enhancers	Stomach Mucosa	stomach

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