Variant report

Variant	rs6674311
Chromosome Location	chr1:215750371-215750372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215748231..215751011-chr1:215755811..215758179,2	MCF-7	breast:
2	chr1:215749324..215751744-chr1:215787011..215788555,2	K562	blood:
3	chr1:215748835..215751621-chr1:215772541..215775026,2	K562	blood:
4	chr1:215749230..215750934-chr1:215753151..215755026,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1027820	1.00[AMR][1000 genomes]
rs1557172	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs1819740	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2102370	1.00[AMR][1000 genomes]
rs3767258	0.91[AFR][1000 genomes]
rs57397989	0.91[AFR][1000 genomes]
rs58542168	0.88[AFR][1000 genomes]
rs58594611	0.88[AFR][1000 genomes]
rs58759277	0.80[AFR][1000 genomes]
rs59417960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59635576	0.91[AFR][1000 genomes]
rs60533889	0.86[AFR][1000 genomes]
rs61346484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540901	1.00[YRI][hapmap]
rs6669126	1.00[AMR][1000 genomes]
rs6669520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673234	1.00[AMR][1000 genomes]
rs6676725	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684615	1.00[AMR][1000 genomes]
rs6684799	1.00[AMR][1000 genomes]
rs6685149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685832	1.00[AMR][1000 genomes]
rs6689680	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs6697600	1.00[AMR][1000 genomes]
rs6700397	0.82[AFR][1000 genomes]
rs73083421	0.82[AFR][1000 genomes]
rs73083429	0.82[AFR][1000 genomes]
rs73083432	1.00[AMR][1000 genomes]
rs73083437	0.86[AFR][1000 genomes]
rs73083461	0.88[AFR][1000 genomes]
rs73083470	0.88[AFR][1000 genomes]
rs73085404	0.84[AFR][1000 genomes]
rs73085410	0.82[AFR][1000 genomes]
rs73085423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087423	0.88[AFR][1000 genomes]
rs7511859	1.00[AMR][1000 genomes]
rs7522198	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522720	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531580	1.00[YRI][hapmap]
rs7545425	1.00[YRI][hapmap];0.95[AFR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215756000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
5	chr1:215742200-215767600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
7	chr1:215742400-215752600	Weak transcription	HSMMtube	muscle
8	chr1:215742400-215757800	Weak transcription	Dnd41	blood
9	chr1:215742800-215751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:215742800-215754600	Weak transcription	Spleen	Spleen
11	chr1:215742800-215756600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:215743000-215772400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:215743600-215755400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:215743800-215756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:215744200-215750400	Weak transcription	Fetal Kidney	kidney
17	chr1:215744200-215767400	Weak transcription	Fetal Brain Male	brain
18	chr1:215744400-215754800	Weak transcription	Fetal Brain Female	brain
19	chr1:215744400-215767600	Weak transcription	NHLF	lung
20	chr1:215744600-215750400	Weak transcription	HMEC	breast
21	chr1:215744800-215750800	Weak transcription	HSMM	muscle
22	chr1:215744800-215751200	Weak transcription	HUVEC	blood vessel
23	chr1:215745000-215750400	Weak transcription	Fetal Lung	lung
24	chr1:215746000-215752400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:215746200-215751000	Weak transcription	NHEK	skin
26	chr1:215746200-215753200	Weak transcription	A549	lung
27	chr1:215746400-215756800	Weak transcription	Right Atrium	heart
28	chr1:215746600-215752400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:215746600-215752400	Weak transcription	Hela-S3	cervix
30	chr1:215746600-215752600	Weak transcription	Aorta	Aorta
31	chr1:215746600-215756600	Weak transcription	Fetal Heart	heart
32	chr1:215746600-215757400	Weak transcription	Stomach Mucosa	stomach
33	chr1:215746600-215768000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:215746800-215751600	Weak transcription	GM12878-XiMat	blood
35	chr1:215746800-215752600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:215747000-215751600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:215747400-215755600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:215747400-215756400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:215748000-215755600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:215748000-215758000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:215748000-215764000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:215748200-215750400	Strong transcription	Fetal Intestine Small	intestine
43	chr1:215748200-215755000	Strong transcription	Fetal Intestine Large	intestine
44	chr1:215748200-215755800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:215748200-215757000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:215748200-215757400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:215748200-215757400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:215748200-215760600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:215748400-215755200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:215748400-215755800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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