Variant report

Variant	rs6700223
Chromosome Location	chr1:209935031-209935032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1007693	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10489342	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10863786	0.85[EUR][1000 genomes]
rs11119337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12079960	0.85[EUR][1000 genomes]
rs1337531	0.93[AMR][1000 genomes]
rs17015169	0.81[EUR][1000 genomes]
rs2064148	0.94[AMR][1000 genomes]
rs2076150	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2205985	0.93[AMR][1000 genomes]
rs2236903	0.91[AMR][1000 genomes]
rs2282738	0.90[AMR][1000 genomes]
rs2282739	0.88[AMR][1000 genomes]
rs2282741	0.93[AMR][1000 genomes]
rs2884090	0.91[AMR][1000 genomes]
rs3753606	0.87[EUR][1000 genomes]
rs3817821	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4314885	0.92[AMR][1000 genomes]
rs4844891	0.93[AMR][1000 genomes]
rs611861	0.87[EUR][1000 genomes]
rs643118	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6540549	0.92[AMR][1000 genomes]
rs6540554	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6540555	0.90[EUR][1000 genomes]
rs6540556	0.89[EUR][1000 genomes]
rs654984	0.87[EUR][1000 genomes]
rs6685077	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6691905	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6696463	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7532324	0.85[ASN][1000 genomes]
rs7536882	0.90[EUR][1000 genomes]
rs7548219	0.90[EUR][1000 genomes]
rs7555978	0.92[AMR][1000 genomes]
rs9430015	0.90[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
3	chr1:209930800-209938800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209931000-209941800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:209931000-209942000	Weak transcription	Esophagus	oesophagus
6	chr1:209931000-209943200	Weak transcription	Lung	lung
7	chr1:209931000-209943600	Weak transcription	Gastric	stomach
8	chr1:209931800-209935400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
9	chr1:209931800-209935800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr1:209931800-209940600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:209932000-209935200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr1:209932000-209936800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:209932200-209935400	Genic enhancers	Fetal Thymus	thymus
14	chr1:209932200-209941200	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:209932200-209941400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:209932200-209941800	Weak transcription	Colonic Mucosa	Colon
17	chr1:209932200-209942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:209932600-209935400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:209932600-209936000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:209932600-209937800	Strong transcription	Dnd41	blood
21	chr1:209932600-209940000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:209932800-209935200	Genic enhancers	Primary B cells from cord blood	blood
23	chr1:209932800-209938000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:209932800-209939400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:209933000-209937800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:209933000-209940000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:209933000-209940800	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:209933200-209936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:209933200-209939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:209933200-209939400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:209933400-209935600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:209933400-209939400	Strong transcription	Thymus	Thymus
33	chr1:209933400-209940600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:209933600-209937800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:209933600-209940800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:209933800-209935400	Weak transcription	Spleen	Spleen
37	chr1:209933800-209938000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:209933800-209939200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:209933800-209941600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:209934000-209941600	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:209934200-209935200	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr1:209934400-209937800	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:209934600-209935200	Enhancers	Fetal Heart	heart
44	chr1:209934600-209941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:209934800-209937800	Strong transcription	GM12878-XiMat	blood
46	chr1:209934800-209939200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:209934800-209940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:209934800-209941800	Weak transcription	Right Ventricle	heart
49	chr1:209934800-209942000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:209934800-209942000	Weak transcription	Right Atrium	heart

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