Variant report

Variant	rs6948885
Chromosome Location	chr7:104664879-104664880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104664494..104666529-chr7:104689516..104692516,3	K562	blood:
2	chr7:104663218..104665844-chr7:104995701..104998605,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10238507	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10266287	0.89[EUR][1000 genomes]
rs10266871	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10277120	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10281422	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10487150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10953468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes]
rs1142	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes]
rs1144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]
rs11760317	0.88[YRI][hapmap];0.91[EUR][1000 genomes]
rs2003506	0.82[EUR][1000 genomes]
rs2192932	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2237612	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2237613	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2240463	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2299308	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2470942	0.94[JPT][hapmap]
rs2470943	0.94[JPT][hapmap]
rs2470944	0.94[JPT][hapmap]
rs2470945	0.94[JPT][hapmap]
rs2470948	0.93[JPT][hapmap]
rs3213742	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34180096	0.80[AFR][1000 genomes]
rs3779210	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3801285	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs3823752	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41562	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs41563	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4727614	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730072	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4730073	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6943183	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6950620	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs6955349	0.88[EUR][1000 genomes]
rs6965384	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6967587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7776707	1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs7797912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656200-104667800	Weak transcription	Gastric	stomach
2	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:104656800-104667600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:104658600-104665200	Weak transcription	Fetal Intestine Large	intestine
5	chr7:104658600-104665600	Weak transcription	Colonic Mucosa	Colon
6	chr7:104658600-104671800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:104658600-104673000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:104658600-104674000	Weak transcription	Fetal Thymus	thymus
9	chr7:104658600-104674200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:104658800-104665200	Weak transcription	Aorta	Aorta
13	chr7:104658800-104671600	Weak transcription	Fetal Intestine Small	intestine
14	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
15	chr7:104659400-104671400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:104659600-104667200	Enhancers	Adipose Nuclei	Adipose
17	chr7:104659600-104671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:104659800-104665000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:104659800-104666200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104660400-104667000	Enhancers	HepG2	liver
22	chr7:104660400-104668600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:104660800-104667600	Weak transcription	Right Atrium	heart
24	chr7:104661000-104665200	Weak transcription	Psoas Muscle	Psoas
25	chr7:104661000-104667600	Weak transcription	Lung	lung
26	chr7:104661000-104667600	Weak transcription	Pancreas	Pancrea
27	chr7:104661000-104667800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:104661000-104668600	Weak transcription	Left Ventricle	heart
29	chr7:104661400-104667200	Enhancers	Colon Smooth Muscle	Colon
30	chr7:104661600-104671200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:104661800-104665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:104662000-104665400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:104662000-104665400	Enhancers	Primary T cells from cord blood	blood
35	chr7:104662000-104668800	Weak transcription	Fetal Stomach	stomach
36	chr7:104662000-104671600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:104662000-104672000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:104662200-104665400	Weak transcription	HSMM	muscle
39	chr7:104662200-104668600	Weak transcription	Spleen	Spleen
40	chr7:104662200-104668800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:104662600-104665200	Weak transcription	Right Ventricle	heart
42	chr7:104662600-104667600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:104662600-104668600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:104662600-104671600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:104662800-104665200	Weak transcription	HSMMtube	muscle
46	chr7:104662800-104665600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:104662800-104670200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:104663000-104669800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:104663200-104665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:104663200-104665400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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