Variant report

Variant	rs73698742
Chromosome Location	chr8:103356242-103356243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103354174..103356522-chr8:103413215..103415897,2	MCF-7	breast:
2	chr8:103354163..103355932-chr8:103355988..103358425,2	MCF-7	breast:
3	chr8:103349329..103351475-chr8:103354670..103357431,2	K562	blood:
4	chr8:103353149..103356839-chr8:103357908..103360371,3	K562	blood:
5	chr8:103354048..103356355-chr8:103421459..103423886,2	MCF-7	breast:
6	chr8:103351132..103353034-chr8:103354690..103357157,2	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1037699	0.81[ASN][1000 genomes]
rs1037700	0.81[ASN][1000 genomes]
rs11774038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774772	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778468	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11784155	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259118	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13266055	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267660	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270916	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13273642	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278113	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869344	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869352	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869362	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869417	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305832	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28973252	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28998469	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34002127	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34609465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34694718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782477	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837214	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34852161	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35090306	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35101027	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35368426	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35537579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35624360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769335	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35771800	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718165	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
10	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:103335800-103370200	Strong transcription	Dnd41	blood
12	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:103339400-103359000	Weak transcription	Spleen	Spleen
14	chr8:103339600-103359000	Weak transcription	Colonic Mucosa	Colon
15	chr8:103340800-103357600	Weak transcription	HSMMtube	muscle
16	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:103342200-103357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:103342200-103357600	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:103344200-103361400	Weak transcription	Right Atrium	heart
20	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:103344600-103364800	Weak transcription	Fetal Heart	heart
22	chr8:103344800-103357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:103344800-103357600	Weak transcription	Esophagus	oesophagus
24	chr8:103345200-103357000	Weak transcription	Fetal Kidney	kidney
25	chr8:103345200-103357400	Weak transcription	Ovary	ovary
26	chr8:103345400-103358200	Weak transcription	Pancreas	Pancrea
27	chr8:103345400-103364800	Weak transcription	Stomach Mucosa	stomach
28	chr8:103345400-103365000	Weak transcription	Gastric	stomach
29	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
30	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
31	chr8:103346400-103357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:103346600-103363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:103347000-103357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:103347200-103360200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:103348200-103358200	Strong transcription	HSMM	muscle
39	chr8:103348200-103364200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:103348600-103364000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:103349200-103359600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:103349200-103359800	Strong transcription	A549	lung
43	chr8:103349600-103360000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:103349600-103360000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:103349600-103364200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:103350000-103362400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:103350000-103366400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:103351200-103361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:103351600-103356400	Weak transcription	Fetal Stomach	stomach
50	chr8:103352200-103359800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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