Variant report

Variant	rs7135617
Chromosome Location	chr12:122069005-122069006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122067919..122069512-chr12:122100581..122103506,2	K562	blood:
2	chr12:122068858..122070627-chr12:122070964..122073158,2	K562	blood:
3	chr12:122048372..122050638-chr12:122068464..122071383,2	K562	blood:
4	chr12:122067280..122069445-chr12:122087321..122089278,2	K562	blood:
5	chr12:122068936..122071796-chr12:122073971..122075897,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743188	0.88[EUR][1000 genomes]
rs12320939	0.84[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs1877484	0.85[EUR][1000 genomes]
rs2242260	1.00[YRI][hapmap]
rs2309142	0.81[EUR][1000 genomes]
rs2669163	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2669166	0.85[TSI][hapmap]
rs2669168	0.81[CEU][hapmap]
rs2720021	0.85[EUR][1000 genomes]
rs2720022	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2720035	0.81[EUR][1000 genomes]
rs2942368	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2942379	0.81[TSI][hapmap]
rs2954116	0.85[EUR][1000 genomes]
rs3825175	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6486786	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6486789	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7397295	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7978609	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122065600-122069600	Enhancers	Spleen	Spleen
3	chr12:122065600-122071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:122065800-122069400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
6	chr12:122066200-122069400	Enhancers	Right Ventricle	heart
7	chr12:122066200-122069400	Enhancers	NHDF-Ad	bronchial
8	chr12:122066200-122070000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:122066200-122071400	Enhancers	Placenta	Placenta
10	chr12:122066200-122071400	Enhancers	Lung	lung
11	chr12:122066200-122071600	Enhancers	Liver	Liver
12	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:122066400-122070000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122066400-122070800	Weak transcription	Esophagus	oesophagus
15	chr12:122066400-122071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:122066400-122071600	Enhancers	Psoas Muscle	Psoas
17	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
18	chr12:122066600-122069400	Enhancers	Adipose Nuclei	Adipose
19	chr12:122066600-122070000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:122066600-122070600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:122066600-122070800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122066600-122070800	Enhancers	HepG2	liver
23	chr12:122066800-122069400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:122066800-122070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:122066800-122070000	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:122066800-122070000	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:122066800-122070200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:122066800-122070200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:122066800-122070200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:122066800-122070200	Weak transcription	Fetal Heart	heart
31	chr12:122066800-122070200	Weak transcription	HSMMtube	muscle
32	chr12:122066800-122070800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:122066800-122071400	Genic enhancers	Fetal Intestine Small	intestine
34	chr12:122067200-122069200	Genic enhancers	Fetal Intestine Large	intestine
35	chr12:122067600-122069400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122067600-122070200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:122067600-122070400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr12:122067600-122071600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:122067800-122069800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:122067800-122070000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:122067800-122070400	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr12:122067800-122070400	Weak transcription	Fetal Kidney	kidney
43	chr12:122067800-122070800	Weak transcription	Gastric	stomach
44	chr12:122067800-122070800	Weak transcription	Pancreas	Pancrea
45	chr12:122067800-122070800	Genic enhancers	NHEK	skin
46	chr12:122067800-122071200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:122067800-122071200	Genic enhancers	Fetal Thymus	thymus
48	chr12:122067800-122071400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:122067800-122071400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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