Variant report

Variant	rs73158611
Chromosome Location	chr7:139425430-139425431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr7:139425193-139425754	GM12878	blood:	n/a	n/a
2	CTCF	chr7:139425300-139425450	HFF-Myc	foreskin:	n/a	n/a
3	POLR2A	chr7:139425314-139425747	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:139424992-139426245	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:139424807-139425835	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:139425042-139425536	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:139424801-139425925	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:139419251..139422817-chr7:139425362..139427689,3	K562	blood:
2	chr7:139423866..139426704-chr7:139427565..139429118,2	K562	blood:
3	chr7:139423996..139426554-chr7:139435588..139437557,2	K562	blood:

Variant related genes	Relation type
HIPK2	TF binding region
ENSG00000064393	Chromatin interaction

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];1.00[ASN][1000 genomes]
rs10230692	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10254826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268753	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278124	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs4074827	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079671	0.85[EUR][1000 genomes]
rs56840127	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61054086	0.96[EUR][1000 genomes]
rs6967634	0.96[EUR][1000 genomes]
rs73158613	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];0.96[ASN][1000 genomes]
rs73158616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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];0.97[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	esv1801056	chr7:139419476-139427361	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:108 , 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	chr7:139414800-139426600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:139416200-139431600	Weak transcription	Fetal Brain Male	brain
4	chr7:139416600-139426600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:139416600-139431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:139416600-139432000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:139416800-139426600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:139416800-139426600	Weak transcription	Esophagus	oesophagus
9	chr7:139416800-139427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:139417000-139431000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:139417200-139433200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:139417400-139425800	Weak transcription	NHEK	skin
13	chr7:139417400-139426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:139417400-139426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:139417400-139427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:139417400-139430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:139417400-139430600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:139417400-139431800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:139419200-139426000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:139419400-139427600	Enhancers	Adipose Nuclei	Adipose
21	chr7:139420000-139426400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:139420000-139426600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:139420000-139428200	Enhancers	Liver	Liver
24	chr7:139420200-139425600	Weak transcription	K562	blood
25	chr7:139420200-139427600	Enhancers	A549	lung
26	chr7:139420200-139427600	Enhancers	Hela-S3	cervix
27	chr7:139420200-139427800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:139420200-139427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:139421000-139428400	Enhancers	Osteobl	bone
30	chr7:139421600-139425800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:139421600-139426600	Weak transcription	Placenta	Placenta
32	chr7:139421600-139429200	Weak transcription	Aorta	Aorta
33	chr7:139421800-139425600	Weak transcription	Fetal Stomach	stomach
34	chr7:139421800-139426000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:139421800-139430600	Weak transcription	Colonic Mucosa	Colon
36	chr7:139421800-139430600	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:139421800-139430600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:139421800-139430600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:139422800-139425600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:139422800-139428000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:139422800-139428200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:139422800-139430600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:139423200-139427600	Enhancers	Primary B cells from cord blood	blood
44	chr7:139423600-139427200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:139423600-139427400	Enhancers	Primary hematopoietic stem cells	blood
46	chr7:139424000-139427600	Enhancers	HSMM	muscle
47	chr7:139424600-139426200	Enhancers	GM12878-XiMat	blood
48	chr7:139424600-139426600	Enhancers	NHDF-Ad	bronchial
49	chr7:139424600-139427600	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:139424600-139428600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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