Variant report

Variant	rs1013893
Chromosome Location	chr6:57184113-57184114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57184109..57185924-chr6:57191382..57194380,2	K562	blood:
2	chr6:57183026..57185889-chr6:57188123..57191219,3	K562	blood:
3	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:
4	chr6:56817510..56820425-chr6:57182215..57184592,2	K562	blood:
5	chr6:57182878..57185696-chr6:57187760..57190457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1013894	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1019210	0.87[CHB][hapmap]
rs1029872	0.83[CHB][hapmap]
rs10733187	0.88[CHB][hapmap]
rs1119375	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs12664535	0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs1618210	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1741916	0.87[CHB][hapmap]
rs1755833	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2013464	0.87[CHB][hapmap]
rs2013480	0.83[CHB][hapmap]
rs2098172	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2191651	0.95[CHB][hapmap]
rs2215511	0.83[CHB][hapmap]
rs3800015	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4288209	0.82[CHB][hapmap]
rs4712144	0.87[CHB][hapmap]
rs4712154	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4715653	0.95[ASN][1000 genomes]
rs4715654	0.87[CHB][hapmap]
rs4715655	0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs4715656	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs4715657	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6459193	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs7738530	0.82[CHB][hapmap]
rs7754116	0.93[ASN][1000 genomes]
rs7756422	0.91[CHB][hapmap]
rs7771738	0.86[CHB][hapmap]
rs9357943	0.92[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9357944	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs9382701	0.95[ASN][1000 genomes]
rs9382736	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs9396278	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9464439	0.83[ASN][1000 genomes]
rs980327	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57181400-57184400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:57182800-57191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:57182800-57192600	Weak transcription	Aorta	Aorta
4	chr6:57182800-57194200	Weak transcription	Small Intestine	intestine
5	chr6:57183000-57184200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:57183000-57184200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:57183000-57184200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:57183000-57184200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:57183000-57184200	Weak transcription	Left Ventricle	heart
10	chr6:57183000-57184400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:57183000-57184400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:57183000-57185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:57183000-57185200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:57183000-57185400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:57183000-57185600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:57183000-57185600	Weak transcription	Right Ventricle	heart
17	chr6:57183000-57191400	Weak transcription	Lung	lung
18	chr6:57183000-57192600	Weak transcription	Esophagus	oesophagus
19	chr6:57183000-57194200	Weak transcription	Pancreas	Pancrea
20	chr6:57183000-57194200	Weak transcription	Spleen	Spleen
21	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
22	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
24	chr6:57183200-57184200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr6:57183200-57184200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:57183200-57184200	Enhancers	HUVEC	blood vessel
27	chr6:57183200-57184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:57183200-57184400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:57183200-57184400	Weak transcription	Fetal Intestine Large	intestine
30	chr6:57183200-57184600	Weak transcription	Fetal Kidney	kidney
31	chr6:57183200-57184800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:57183200-57185000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:57183200-57185200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:57183200-57185200	Weak transcription	Brain Anterior Caudate	brain
35	chr6:57183200-57185200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:57183200-57185400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:57183200-57185400	Weak transcription	Fetal Brain Female	brain
38	chr6:57183200-57185400	Weak transcription	Ovary	ovary
39	chr6:57183200-57185600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:57183200-57185600	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:57183200-57185600	Weak transcription	Thymus	Thymus
42	chr6:57183200-57186800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:57183200-57187200	Weak transcription	Stomach Mucosa	stomach
44	chr6:57183200-57187400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:57183200-57190000	Weak transcription	Fetal Intestine Small	intestine
46	chr6:57183200-57190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:57183200-57190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:57183200-57191400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:57183200-57191600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:57183200-57191800	Weak transcription	Gastric	stomach

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