Variant report

Variant	rs4714223
Chromosome Location	chr6:39186329-39186330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39159091..39165465-chr6:39185781..39190794,6	K562	blood:
2	chr6:39177427..39182769-chr6:39182785..39188256,10	K562	blood:
3	chr6:39155283..39157120-chr6:39186284..39188129,2	K562	blood:
4	chr6:39156141..39158653-chr6:39184593..39186726,2	MCF-7	breast:
5	chr6:39186069..39188057-chr6:39192184..39193839,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10807202	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947786	0.83[CHB][hapmap]
rs10947787	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947788	0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10947789	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12190363	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12200013	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12202900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207689	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033226	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711585	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714224	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55818834	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6918122	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851851	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39150600-39193800	Genic enhancers	Fetal Intestine Small	intestine
2	chr6:39156800-39193400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:39163800-39192800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:39169400-39193600	Enhancers	Liver	Liver
5	chr6:39174200-39195000	Enhancers	Stomach Mucosa	stomach
6	chr6:39177600-39186400	Weak transcription	Primary T cells from cord blood	blood
7	chr6:39178000-39193400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:39178200-39186600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:39178600-39193200	Weak transcription	Thymus	Thymus
10	chr6:39179000-39186800	Genic enhancers	Fetal Thymus	thymus
11	chr6:39181800-39189400	Genic enhancers	K562	blood
12	chr6:39182000-39186800	Enhancers	Lung	lung
13	chr6:39182200-39190000	Enhancers	Pancreas	Pancrea
14	chr6:39182200-39195200	Enhancers	Fetal Lung	lung
15	chr6:39183000-39186600	Genic enhancers	Placenta	Placenta
16	chr6:39183200-39192800	Weak transcription	Right Atrium	heart
17	chr6:39183400-39192400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:39183600-39186400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:39183600-39187400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:39183600-39188000	Enhancers	A549	lung
21	chr6:39183600-39188600	Weak transcription	Fetal Kidney	kidney
22	chr6:39183600-39188600	Weak transcription	Gastric	stomach
23	chr6:39183600-39191000	Weak transcription	Esophagus	oesophagus
24	chr6:39183800-39186400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:39183800-39186800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:39184000-39186400	Enhancers	Colonic Mucosa	Colon
27	chr6:39184200-39187400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:39184400-39188000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:39184400-39191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:39184400-39193400	Weak transcription	Hela-S3	cervix
31	chr6:39184600-39186600	Weak transcription	GM12878-XiMat	blood
32	chr6:39184600-39187600	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:39184600-39188600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:39184800-39188000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:39185000-39186600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:39185000-39187600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:39185000-39188400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:39185000-39194400	Enhancers	Ovary	ovary
39	chr6:39185200-39187000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:39185200-39187800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:39185200-39188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:39185400-39187600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:39185400-39189000	Enhancers	Spleen	Spleen
44	chr6:39185600-39187000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:39185600-39192600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:39185800-39187000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:39185800-39188200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:39185800-39192000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:39186000-39186600	Strong transcription	Fetal Stomach	stomach
50	chr6:39186000-39188400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links