Variant report

Variant	rs10035037
Chromosome Location	chr4:99918661-99918662
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
2	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
3	chr4:99916814..99918708-chr4:100004523..100006516,2	MCF-7	breast:
4	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
5	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
6	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
7	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

Variant related genes	Relation type
ENSG00000197894	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10014193	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10016255	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037475	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097645	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721765	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731878	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940529	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230159	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[LWK][hapmap];0.95[ASN][1000 genomes]
rs1230160	0.95[ASN][1000 genomes]
rs1230169	0.95[ASN][1000 genomes]
rs1230174	0.90[ASN][1000 genomes]
rs1230175	1.00[CHB][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs1230178	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[LWK][hapmap];0.95[ASN][1000 genomes]
rs1230179	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230182	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[ASN][1000 genomes]
rs1230186	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[ASN][1000 genomes]
rs1230195	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230196	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230197	0.95[ASN][1000 genomes]
rs1230200	0.95[ASN][1000 genomes]
rs1230203	0.88[ASN][1000 genomes]
rs1230205	0.92[CHB][hapmap];0.93[CHD][hapmap];0.91[ASN][1000 genomes]
rs1230206	0.92[CHB][hapmap];0.90[CHD][hapmap];0.91[ASN][1000 genomes]
rs1230207	0.91[ASN][1000 genomes]
rs1230209	1.00[CHB][hapmap];0.92[YRI][hapmap];0.94[ASN][1000 genomes]
rs1234973	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12374261	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238741	0.92[CHB][hapmap];0.93[CHD][hapmap];0.91[ASN][1000 genomes]
rs12512420	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1453871	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17216446	0.85[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869459	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167981	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602910	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs28539514	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866032	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35203362	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3974876	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57098596	0.91[ASN][1000 genomes]
rs62323229	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817991	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822589	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6840282	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840922	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846221	0.82[CEU][hapmap]
rs6846475	0.84[CEU][hapmap]
rs6848246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6850128	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6850293	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6854386	0.82[ASN][1000 genomes]
rs7656935	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7674319	0.84[CEU][hapmap]
rs7674742	0.82[CEU][hapmap]
rs7676259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7690818	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696573	0.84[CEU][hapmap]
rs7696584	0.84[CEU][hapmap]
rs9332467	0.84[CEU][hapmap]
rs9685029	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9685062	0.92[ASN][1000 genomes]
rs9992105	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10035037	ADH5	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99915800-99919200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:99916000-99919200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:99916200-99918800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:99917600-99918800	Flanking Active TSS	Dnd41	blood
5	chr4:99917800-99918800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr4:99918000-99918800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:99918000-99918800	Enhancers	Colon Smooth Muscle	Colon
8	chr4:99918000-99919000	Flanking Active TSS	NHEK	skin
9	chr4:99918000-99919200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:99918000-99919200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:99918000-99919200	Weak transcription	Placenta	Placenta
12	chr4:99918000-99919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:99918000-99919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:99918000-99920400	Enhancers	Small Intestine	intestine
15	chr4:99918000-99923600	Weak transcription	Gastric	stomach
16	chr4:99918000-99925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:99918000-99928200	Weak transcription	Esophagus	oesophagus
18	chr4:99918200-99918800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:99918200-99918800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr4:99918200-99918800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:99918200-99918800	Enhancers	NH-A	brain
22	chr4:99918200-99919000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:99918200-99919000	Enhancers	Primary T cells from cord blood	blood
24	chr4:99918200-99919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:99918200-99919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:99918200-99919200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:99918200-99919200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:99918200-99919200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:99918200-99919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:99918200-99919200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:99918200-99919200	Weak transcription	Left Ventricle	heart
32	chr4:99918200-99919200	Weak transcription	Pancreas	Pancrea
33	chr4:99918200-99919200	Enhancers	Hela-S3	cervix
34	chr4:99918200-99919400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:99918200-99919400	Enhancers	Fetal Lung	lung
36	chr4:99918200-99919600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:99918200-99919600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:99918200-99920200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:99918200-99920400	Enhancers	Fetal Intestine Small	intestine
40	chr4:99918200-99922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:99918200-99922000	Weak transcription	Osteobl	bone
42	chr4:99918200-99923600	Weak transcription	Psoas Muscle	Psoas
43	chr4:99918200-99925000	Weak transcription	Right Atrium	heart
44	chr4:99918200-99925400	Weak transcription	Aorta	Aorta
45	chr4:99918200-99927400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:99918200-99928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:99918200-99928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:99918200-99930200	Weak transcription	Fetal Brain Male	brain
49	chr4:99918200-99930200	Weak transcription	HSMM	muscle
50	chr4:99918200-99931000	Weak transcription	Primary monocytes fromperipheralblood	blood

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