Variant report

Variant	rs6603957
Chromosome Location	chr1:78137882-78137883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78129208..78133797-chr1:78137082..78139912,5	K562	blood:
2	chr1:78129092..78131058-chr1:78135952..78139290,4	K562	blood:
3	chr1:78100423..78102649-chr1:78136291..78138441,3	K562	blood:
4	chr1:78134752..78136322-chr1:78136950..78139652,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17100817	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17100819	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17100986	0.81[ASW][hapmap];0.80[AFR][1000 genomes]
rs1874816	1.00[CEU][hapmap]
rs2018593	0.81[EUR][1000 genomes]
rs34351666	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34974859	0.90[EUR][1000 genomes]
rs41313399	0.93[EUR][1000 genomes]
rs6604877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6659285	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6660964	1.00[CEU][hapmap]
rs6662245	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs6677011	0.90[EUR][1000 genomes]
rs6678173	0.84[EUR][1000 genomes]
rs6679645	1.00[CEU][hapmap]
rs6701361	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72683694	0.80[AFR][1000 genomes]
rs7523258	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7525538	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7532455	1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs7546155	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7546605	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs7550587	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7555421	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7555864	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9659817	1.00[CEU][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78099000-78147200	Weak transcription	Gastric	stomach
2	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
3	chr1:78110400-78138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:78111200-78147200	Weak transcription	Esophagus	oesophagus
5	chr1:78112200-78139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:78116800-78144600	Weak transcription	NHEK	skin
7	chr1:78117200-78144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:78117400-78138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:78117400-78141800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:78117400-78147200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:78117600-78138200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:78117600-78139800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:78117600-78146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:78117600-78147200	Weak transcription	Thymus	Thymus
15	chr1:78118600-78146000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:78119000-78139000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:78119000-78145600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:78119000-78146000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:78119400-78147200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:78120800-78147200	Weak transcription	Lung	lung
21	chr1:78123800-78139400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:78124600-78146000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:78127000-78146400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:78127400-78139800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:78128800-78141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:78128800-78141800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:78131000-78141800	Weak transcription	Fetal Stomach	stomach
28	chr1:78131000-78146800	Weak transcription	Fetal Brain Female	brain
29	chr1:78131800-78139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:78131800-78145000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:78132000-78144200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:78132000-78147200	Weak transcription	Right Ventricle	heart
33	chr1:78132200-78139000	Weak transcription	Left Ventricle	heart
34	chr1:78132200-78139000	Weak transcription	Pancreas	Pancrea
35	chr1:78132200-78141800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:78133800-78143600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:78134000-78138400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:78134400-78138200	Enhancers	K562	blood
39	chr1:78134800-78138800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:78135000-78146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:78135200-78139200	Weak transcription	Fetal Heart	heart
42	chr1:78135200-78141000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:78135800-78139200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:78136200-78138400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:78136200-78138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:78136200-78138600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:78136400-78139400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:78136400-78147200	Weak transcription	Spleen	Spleen
49	chr1:78136600-78138200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:78136600-78138600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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