Variant report

Variant	rs1991928
Chromosome Location	chr8:103873091-103873092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103872736-103873174	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:103872730-103873592	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:103873046-103873093	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr8:103872967-103873300	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:103873014-103873475	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:103872805-103873243	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103871682..103873359-chr8:104047090..104048964,2	K562	blood:
3	chr8:103842048..103844243-chr8:103871500..103874316,2	K562	blood:
4	chr8:103848297..103849915-chr8:103872924..103874718,2	K562	blood:
5	chr8:103871573..103873422-chr8:103904403..103907329,2	K562	blood:
6	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
7	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
8	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
AZIN1	TF binding region
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1019976	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062048	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955294	1.00[YRI][hapmap]
rs17776569	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17776600	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1802539	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1806300	0.91[ASN][1000 genomes]
rs1897787	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982111	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2247355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2436849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436850	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2436851	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436854	0.95[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs2436856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2436861	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513875	0.85[AFR][1000 genomes]
rs2513876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513911	0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513912	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513915	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513917	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513920	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513923	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513936	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570945	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2570951	0.97[ASN][1000 genomes]
rs2570952	0.95[ASN][1000 genomes]
rs2679736	0.97[ASN][1000 genomes]
rs2679737	0.97[ASN][1000 genomes]
rs2679740	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2679745	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018943	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3018954	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34157576	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34352733	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35656046	0.91[ASN][1000 genomes]
rs565720	0.88[CHB][hapmap]
rs581610	0.87[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs601088	0.94[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs688791	0.87[ASN][1000 genomes]
rs974758	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1991928	AZIN1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
3	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
4	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
5	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
7	chr8:103866200-103874200	Weak transcription	HSMMtube	muscle
8	chr8:103866400-103874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103866400-103874200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:103866600-103873600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:103866600-103874200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:103866600-103874200	Weak transcription	Right Ventricle	heart
13	chr8:103866600-103874400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:103866800-103873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:103866800-103874200	Weak transcription	Spleen	Spleen
16	chr8:103866800-103874800	Weak transcription	Lung	lung
17	chr8:103867600-103874200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:103867600-103874200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:103867600-103874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:103867600-103874400	Weak transcription	Fetal Stomach	stomach
21	chr8:103867800-103873200	Genic enhancers	A549	lung
22	chr8:103868000-103873400	Weak transcription	Thymus	Thymus
23	chr8:103869200-103873400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:103869200-103874200	Weak transcription	Fetal Lung	lung
25	chr8:103869400-103874400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:103869400-103874400	Weak transcription	Fetal Kidney	kidney
27	chr8:103870200-103873600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:103870200-103874200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:103870200-103874400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:103870200-103874400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:103870400-103873600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:103870400-103874200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:103870400-103874400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:103870400-103874600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:103870800-103874200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:103871000-103873200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr8:103871000-103873600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:103871000-103874400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:103871000-103874600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:103871200-103873400	Enhancers	HMEC	breast
41	chr8:103871200-103873800	Genic enhancers	NHEK	skin
42	chr8:103871200-103874200	Enhancers	HepG2	liver
43	chr8:103871200-103874400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:103871400-103873800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:103871400-103874600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:103871600-103874000	Enhancers	Brain Germinal Matrix	brain
47	chr8:103871600-103874600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:103871600-103874800	Weak transcription	Stomach Mucosa	stomach
49	chr8:103871800-103873200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:103871800-103873200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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