Variant report

Variant	rs2415243
Chromosome Location	chr15:74746771-74746772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr15:74746468-74746779	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:74746414-74746832	SK-N-MC	brain:	n/a	n/a
3	RUNX3	chr15:74746481-74746823	GM12878	blood:	n/a	n/a
4	RUNX3	chr15:74746422-74746838	GM12878	blood:	n/a	n/a
5	ZNF384	chr15:74746525-74746891	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74746310..74749476-chr15:74751407..74754254,4	MCF-7	breast:
2	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
3	chr15:74745993..74748683-chr15:74753892..74756532,4	K562	blood:
4	chr15:74745747..74749523-chr15:74749987..74753880,5	K562	blood:

Variant related genes	Relation type
UBL7	TF binding region
ENSG00000247240	Chromatin interaction
ENSG00000138629	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1030888	0.81[EUR][1000 genomes]
rs10459601	0.81[EUR][1000 genomes]
rs11072484	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072491	0.84[EUR][1000 genomes]
rs11855521	0.81[AFR][1000 genomes]
rs11856543	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11857192	0.82[EUR][1000 genomes]
rs12439054	0.81[EUR][1000 genomes]
rs12439505	0.83[AFR][1000 genomes]
rs12440645	0.86[AFR][1000 genomes]
rs12441794	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592493	0.84[AFR][1000 genomes]
rs12592906	0.83[AFR][1000 genomes]
rs12595017	0.83[AFR][1000 genomes]
rs1866114	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2099593	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289187	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28362872	0.89[AMR][1000 genomes]
rs28362901	0.89[AMR][1000 genomes]
rs28854237	0.84[EUR][1000 genomes]
rs2899826	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35752918	0.82[AFR][1000 genomes]
rs4077703	0.90[AFR][1000 genomes]
rs4548815	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886599	0.80[AFR][1000 genomes]
rs4887145	0.89[AMR][1000 genomes]
rs4887146	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887153	0.84[AFR][1000 genomes]
rs4887154	0.83[AFR][1000 genomes]
rs4887156	0.81[EUR][1000 genomes]
rs4887158	0.81[EUR][1000 genomes]
rs55662551	0.83[AFR][1000 genomes]
rs56274514	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56363130	0.87[EUR][1000 genomes]
rs56367313	0.84[AFR][1000 genomes]
rs57271230	0.82[AFR][1000 genomes]
rs59665282	0.81[EUR][1000 genomes]
rs6495103	0.85[AFR][1000 genomes]
rs6495104	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495105	0.80[AFR][1000 genomes]
rs6495107	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495112	0.84[EUR][1000 genomes]
rs7161990	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7163775	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7166701	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7175512	0.84[EUR][1000 genomes]
rs7177140	0.83[AFR][1000 genomes]
rs7497036	0.87[EUR][1000 genomes]
rs750608	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023786	0.87[EUR][1000 genomes]
rs8028893	0.81[EUR][1000 genomes]
rs8036616	0.89[AMR][1000 genomes]
rs8041068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8041121	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8042323	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788672	0.87[EUR][1000 genomes]

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	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:74727200-74747200	Weak transcription	NHDF-Ad	bronchial
3	chr15:74735200-74752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:74735600-74751200	Strong transcription	Thymus	Thymus
5	chr15:74736000-74752400	Weak transcription	Fetal Brain Male	brain
6	chr15:74736200-74751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:74736400-74751400	Strong transcription	Fetal Muscle Leg	muscle
8	chr15:74736600-74747800	Strong transcription	Fetal Brain Female	brain
9	chr15:74736600-74749800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:74736600-74751000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:74736600-74751200	Strong transcription	Fetal Intestine Small	intestine
12	chr15:74736600-74751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:74736600-74751400	Strong transcription	Fetal Stomach	stomach
14	chr15:74736800-74747400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:74736800-74747600	Strong transcription	Ovary	ovary
16	chr15:74736800-74748000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:74736800-74749000	Strong transcription	Primary B cells from cord blood	blood
18	chr15:74736800-74749400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:74736800-74749600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:74736800-74751200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:74736800-74751200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:74736800-74751400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:74736800-74751600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:74737000-74749200	Strong transcription	Brain Germinal Matrix	brain
25	chr15:74737000-74749400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:74737000-74750000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:74737000-74751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:74737000-74751400	Strong transcription	Fetal Intestine Large	intestine
29	chr15:74737000-74751600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:74737200-74746800	Weak transcription	Right Atrium	heart
31	chr15:74737200-74750800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:74737200-74751200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr15:74737400-74747600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:74737400-74749000	Strong transcription	Brain Anterior Caudate	brain
35	chr15:74737400-74749600	Strong transcription	Left Ventricle	heart
36	chr15:74737400-74749800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:74737600-74749400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:74737800-74748600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:74737800-74752600	Weak transcription	HUVEC	blood vessel
40	chr15:74738600-74749400	Strong transcription	Fetal Lung	lung
41	chr15:74739800-74749600	Strong transcription	Liver	Liver
42	chr15:74741000-74747400	Weak transcription	A549	lung
43	chr15:74741600-74747000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:74741800-74752400	Weak transcription	HMEC	breast
45	chr15:74742000-74752600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:74742400-74752000	Weak transcription	Small Intestine	intestine
47	chr15:74742800-74752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:74743000-74752600	Weak transcription	Psoas Muscle	Psoas
49	chr15:74743200-74752600	Weak transcription	Stomach Mucosa	stomach
50	chr15:74743600-74748800	Weak transcription	Rectal Smooth Muscle	rectum

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