Variant report

Variant	rs17161230
Chromosome Location	chr7:139609601-139609602
allele	C/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139608918..139612096-chr7:139612765..139616269,8	K562	blood:
2	chr7:139609242..139611972-chr7:139675642..139677327,2	K562	blood:
3	chr7:139597457..139602429-chr7:139608669..139612217,5	K562	blood:
4	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:
5	chr7:139597457..139599569-chr7:139609455..139612217,2	K562	blood:
6	chr7:139467872..139470323-chr7:139609014..139611111,2	K562	blood:
7	chr7:139600929..139605741-chr7:139607459..139611402,5	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10252208	1.00[MEX][hapmap]
rs10255449	1.00[MEX][hapmap]
rs10261500	1.00[MEX][hapmap]
rs10261757	1.00[MEX][hapmap]
rs10271046	1.00[MEX][hapmap]
rs17161128	1.00[MEX][hapmap]
rs17161198	1.00[MEX][hapmap]
rs17161200	1.00[MEX][hapmap]
rs17161201	1.00[MEX][hapmap]
rs17161202	1.00[MEX][hapmap]
rs17161272	1.00[MEX][hapmap]
rs1859568	1.00[MEX][hapmap]
rs2158667	1.00[MEX][hapmap]
rs4529	1.00[MEX][hapmap]
rs6954520	1.00[MEX][hapmap]
rs6963499	1.00[MEX][hapmap]
rs6963553	1.00[MEX][hapmap]
rs6964028	1.00[MEX][hapmap]
rs7777901	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139577000-139612400	Weak transcription	Thymus	Thymus
2	chr7:139598200-139611400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139599200-139612800	Weak transcription	Spleen	Spleen
4	chr7:139602200-139609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:139606200-139609800	Weak transcription	Aorta	Aorta
6	chr7:139607000-139612800	Weak transcription	Liver	Liver
7	chr7:139607000-139615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:139608400-139612600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:139608600-139610200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:139608600-139615000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:139608600-139615200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:139608800-139610200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:139608800-139612800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:139608800-139615600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr7:139609000-139610000	Enhancers	HSMM	muscle
16	chr7:139609000-139610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:139609000-139610200	Enhancers	K562	blood
18	chr7:139609200-139609800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:139609200-139610000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:139609200-139610000	Enhancers	Osteobl	bone
21	chr7:139609200-139614000	Weak transcription	HUVEC	blood vessel
22	chr7:139609200-139615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:139609400-139610000	Enhancers	Fetal Lung	lung
24	chr7:139609400-139610000	Enhancers	NHDF-Ad	bronchial
25	chr7:139609600-139609800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:139609600-139609800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:139609600-139609800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:139609600-139609800	Enhancers	Fetal Heart	heart
29	chr7:139609600-139610000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:139609600-139610000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:139609600-139610000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:139609600-139610000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:139609600-139610000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:139609600-139610000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:139609600-139610000	ZNF genes & repeats	Lung	lung
36	chr7:139609600-139610000	Enhancers	Psoas Muscle	Psoas
37	chr7:139609600-139610000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:139609600-139610000	Enhancers	HSMMtube	muscle
39	chr7:139609600-139610000	Enhancers	NHEK	skin
40	chr7:139609600-139610000	Enhancers	NHLF	lung
41	chr7:139609600-139612200	Weak transcription	Fetal Thymus	thymus
42	chr7:139609600-139613800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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