Variant report

Variant	rs73158613
Chromosome Location	chr7:139435454-139435455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139431432..139433625-chr7:139434352..139436419,2	K562	blood:
2	chr7:139434157..139436413-chr7:139439678..139442107,2	K562	blood:
3	chr7:139428341..139431323-chr7:139433637..139435955,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1015121	0.96[EUR][1000 genomes]
rs10224408	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230692	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268753	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278124	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106768	0.90[EUR][1000 genomes]
rs12155449	0.90[EUR][1000 genomes]
rs12374779	0.96[EUR][1000 genomes]
rs12374780	0.95[EUR][1000 genomes]
rs17177103	0.96[EUR][1000 genomes]
rs17177358	0.96[EUR][1000 genomes]
rs17262390	0.96[EUR][1000 genomes]
rs17262662	0.92[EUR][1000 genomes]
rs17262676	0.92[EUR][1000 genomes]
rs4074826	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074827	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56079671	0.85[EUR][1000 genomes]
rs56840127	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61054086	0.96[EUR][1000 genomes]
rs6967634	0.96[EUR][1000 genomes]
rs73158611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73158614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73158616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740818	0.94[EUR][1000 genomes]
rs7787807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793114	0.96[EUR][1000 genomes]
rs7798740	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139414600-139437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:139427600-139438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:139428400-139437200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:139429000-139435600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:139430400-139439600	Enhancers	Adipose Nuclei	Adipose
6	chr7:139430600-139438400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:139431600-139440200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:139431800-139435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:139432000-139436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:139432000-139438400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:139432000-139439200	Enhancers	Stomach Mucosa	stomach
12	chr7:139432200-139436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:139432200-139437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:139432200-139461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:139432400-139435600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:139432400-139435800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:139432400-139436000	Weak transcription	Fetal Kidney	kidney
18	chr7:139432400-139436200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:139432400-139436200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:139432400-139436400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:139432400-139437000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:139432400-139437000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:139432400-139437200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:139432400-139437200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:139432400-139437200	Weak transcription	Brain Germinal Matrix	brain
26	chr7:139432400-139437400	Weak transcription	Colonic Mucosa	Colon
27	chr7:139432400-139437400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:139432400-139437600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:139432400-139437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:139432400-139437600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:139432400-139437800	Enhancers	Brain Substantia Nigra	brain
32	chr7:139432400-139437800	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:139432400-139437800	Weak transcription	Fetal Lung	lung
34	chr7:139432400-139438000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:139432400-139438000	Enhancers	Brain Hippocampus Middle	brain
36	chr7:139432400-139439600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:139432400-139439800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:139432400-139440200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:139432400-139458600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:139432600-139437400	Weak transcription	Placenta	Placenta
41	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
42	chr7:139433000-139435600	Weak transcription	Thymus	Thymus
43	chr7:139433200-139435600	Enhancers	HMEC	breast
44	chr7:139433200-139435800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:139433200-139439200	Enhancers	NHDF-Ad	bronchial
46	chr7:139433400-139435600	Enhancers	HSMMtube	muscle
47	chr7:139433400-139439000	Genic enhancers	HSMM	muscle
48	chr7:139433400-139455800	Enhancers	Brain Angular Gyrus	brain
49	chr7:139433600-139435800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:139433600-139436800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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