Variant report

Variant	rs13235596
Chromosome Location	chr7:127385142-127385143
allele	A/G
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	chr7:127383908..127385413-chr7:127395704..127397297,2	K562	blood:
2	chr7:127383405..127387051-chr7:127397788..127400702,3	K562	blood:
3	chr7:127378569..127381323-chr7:127384517..127386494,2	K562	blood:
4	chr7:127382791..127385183-chr7:127391809..127394615,2	K562	blood:
5	chr7:127373308..127374942-chr7:127382785..127385522,2	K562	blood:
6	chr7:127371412..127373444-chr7:127383896..127385666,2	K562	blood:
7	chr7:127376085..127378242-chr7:127382907..127385887,2	K562	blood:

No data

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10487496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs17662800	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17663644	1.00[AMR][1000 genomes]
rs17718364	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34188289	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34250605	0.89[AMR][1000 genomes]
rs34844752	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34874680	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34980225	1.00[AMR][1000 genomes]
rs35120956	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35246122	1.00[AMR][1000 genomes]
rs35307919	1.00[AMR][1000 genomes]
rs35421080	1.00[AMR][1000 genomes]
rs35521470	0.89[AMR][1000 genomes]
rs35585856	0.89[AMR][1000 genomes]
rs35640048	1.00[AMR][1000 genomes]
rs35872516	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36043097	1.00[AMR][1000 genomes]
rs36046498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3757785	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3808090	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808111	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3808115	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58341788	1.00[AMR][1000 genomes]
rs58451280	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481380	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62481384	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62481393	1.00[AMR][1000 genomes]
rs737242	1.00[AMR][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7788592	0.89[AMR][1000 genomes]
rs7808161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7811506	0.80[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
4	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
10	chr7:127371200-127391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:127371800-127391200	Weak transcription	Esophagus	oesophagus
12	chr7:127372000-127391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:127372200-127386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:127372200-127391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:127372200-127395600	Weak transcription	Thymus	Thymus
16	chr7:127372400-127391200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:127372400-127391200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:127372600-127385600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:127372600-127391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:127372600-127391200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:127372600-127394600	Weak transcription	Ovary	ovary
22	chr7:127373200-127391200	Weak transcription	Brain Substantia Nigra	brain
23	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:127373400-127391000	Weak transcription	HSMMtube	muscle
25	chr7:127374000-127391000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:127374400-127390400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:127374800-127392200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:127375000-127388600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:127375200-127387800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:127375200-127391200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:127375200-127395800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:127375400-127391200	Weak transcription	Adipose Nuclei	Adipose
33	chr7:127375400-127391800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:127375600-127389800	Weak transcription	Fetal Intestine Small	intestine
36	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
38	chr7:127377000-127409200	Weak transcription	NHLF	lung
39	chr7:127377200-127391200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127377400-127386000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127377400-127390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:127377400-127390800	Weak transcription	Osteobl	bone
43	chr7:127377400-127391000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:127377400-127391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:127377400-127391200	Weak transcription	Lung	lung
46	chr7:127377600-127385800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127377800-127389400	Weak transcription	Fetal Lung	lung
48	chr7:127377800-127390800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:127378000-127391200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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