Variant report

Variant	rs6670332
Chromosome Location	chr1:93620520-93620521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93613123..93615583-chr1:93618455..93620652,3	K562	blood:
2	chr1:93610465..93612424-chr1:93619374..93622309,4	K562	blood:
3	chr1:93613005..93617046-chr1:93618640..93622710,7	K562	blood:
4	chr1:93609299..93611965-chr1:93618849..93621976,3	K562	blood:
5	chr1:93619843..93621519-chr1:93631084..93633195,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3754187	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767965	1.00[EUR][1000 genomes]
rs485622	1.00[ASN][1000 genomes]
rs488646	0.84[ASN][1000 genomes]
rs504810	1.00[ASN][1000 genomes]
rs506556	1.00[ASN][1000 genomes]
rs519723	1.00[ASN][1000 genomes]
rs605759	1.00[ASN][1000 genomes]
rs6604040	1.00[EUR][1000 genomes]
rs6658017	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659212	1.00[AMR][1000 genomes]
rs6667727	1.00[EUR][1000 genomes]
rs6690225	1.00[EUR][1000 genomes]
rs693872	1.00[ASN][1000 genomes]
rs7514162	1.00[EUR][1000 genomes]
rs7527424	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527559	1.00[EUR][1000 genomes]
rs7550868	1.00[EUR][1000 genomes]
rs7550887	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
2	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
4	chr1:93578800-93620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:93580000-93624000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:93582400-93642800	Weak transcription	Gastric	stomach
8	chr1:93583200-93628800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:93583600-93623800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:93583600-93635400	Weak transcription	Pancreas	Pancrea
11	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
12	chr1:93586200-93623400	Weak transcription	Fetal Brain Male	brain
13	chr1:93586800-93621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:93595800-93635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93597400-93625400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:93600400-93635400	Weak transcription	Spleen	Spleen
17	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
18	chr1:93601400-93635400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:93602600-93620600	Weak transcription	Colonic Mucosa	Colon
20	chr1:93602600-93620600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:93602600-93624200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:93602600-93628800	Weak transcription	Aorta	Aorta
23	chr1:93602600-93630200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:93602600-93630200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:93603400-93620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:93603400-93624600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:93603600-93620600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:93603600-93621800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:93603600-93629200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:93604600-93620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:93606800-93621800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:93606800-93623600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:93606800-93635400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:93609000-93627400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:93611200-93626200	Strong transcription	Fetal Thymus	thymus
37	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:93613000-93626000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:93613000-93626000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:93613200-93625000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:93613200-93626200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:93613200-93627800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:93613400-93620600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:93613400-93620600	Strong transcription	HUVEC	blood vessel
45	chr1:93613400-93623000	Strong transcription	Primary B cells from cord blood	blood
46	chr1:93613400-93625000	Strong transcription	HSMM	muscle
47	chr1:93613400-93625200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:93613600-93620600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:93613600-93620600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:93613600-93620600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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