Variant report

Variant	rs35651077
Chromosome Location	chr15:77639611-77639612
allele	C/T
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	ZNF217	chr15:77639445-77639959	MCF-7	breast:	n/a	n/a
2	FOS	chr15:77639511-77640165	HUVEC	blood vessel:	n/a	chr15:77639682-77639689
3	SIN3AK20	chr15:77639447-77640191	MCF-7	breast:	n/a	n/a
4	GATA2	chr15:77639471-77639894	SH-SY5Y	brain:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639671-77639687 chr15:77639785-77639806
5	TCF7L2	chr15:77639546-77639863	MCF-7	breast:	n/a	n/a
6	JUND	chr15:77639557-77639757	K562	blood:	n/a	chr15:77639682-77639689
7	GATA3	chr15:77639301-77640011	MCF-7	breast:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639586-77639594 chr15:77639671-77639687 chr15:77639675-77639683 chr15:77639785-77639806
8	RCOR1	chr15:77639582-77639898	K562	blood:	n/a	n/a
9	GATA2	chr15:77639218-77640016	HUVEC	blood vessel:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639671-77639687 chr15:77639785-77639806
10	MEF2A	chr15:77639316-77639864	SK-N-SH	brain:	n/a	chr15:77639837-77639858 chr15:77639587-77639601 chr15:77639837-77639858 chr15:77639582-77639603 chr15:77639837-77639858 chr15:77639588-77639599
11	GATA3	chr15:77639509-77639887	MCF-7	breast:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639586-77639594 chr15:77639671-77639687 chr15:77639675-77639683 chr15:77639785-77639806
12	GATA3	chr15:77639212-77640112	SK-N-SH	brain:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639586-77639594 chr15:77639671-77639687 chr15:77639675-77639683 chr15:77639785-77639806
13	GATA3	chr15:77639180-77639949	SK-N-SH	brain:	n/a	chr15:77639674-77639683 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639792-77639799 chr15:77639586-77639594 chr15:77639671-77639687 chr15:77639675-77639683 chr15:77639785-77639806

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:

Variant related genes	Relation type
PEAK1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10162778	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11853696	0.88[ASN][1000 genomes]
rs11856084	0.83[ASN][1000 genomes]
rs11857330	0.83[ASN][1000 genomes]
rs12324016	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324211	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12324795	0.85[ASN][1000 genomes]
rs12912084	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13380202	0.92[ASN][1000 genomes]
rs1493699	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968799	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17384809	0.92[ASN][1000 genomes]
rs17385059	0.92[ASN][1000 genomes]
rs17385296	0.92[ASN][1000 genomes]
rs17385352	0.92[ASN][1000 genomes]
rs17470529	0.90[ASN][1000 genomes]
rs17470952	0.86[ASN][1000 genomes]
rs17471252	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17471431	0.83[ASN][1000 genomes]
rs17471480	0.83[ASN][1000 genomes]
rs17471697	0.81[ASN][1000 genomes]
rs17471753	0.81[ASN][1000 genomes]
rs2012740	0.83[ASN][1000 genomes]
rs2012756	0.83[ASN][1000 genomes]
rs2172587	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307141	0.83[ASN][1000 genomes]
rs28437977	0.90[ASN][1000 genomes]
rs2864840	0.87[ASN][1000 genomes]
rs3784787	0.90[ASN][1000 genomes]
rs3784788	0.81[ASN][1000 genomes]
rs4592615	0.83[ASN][1000 genomes]
rs4886863	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886864	0.90[ASN][1000 genomes]
rs4886865	0.90[ASN][1000 genomes]
rs59362734	0.82[ASN][1000 genomes]
rs59386622	0.83[ASN][1000 genomes]
rs62007297	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62010566	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163620	0.83[ASN][1000 genomes]
rs74026910	0.84[ASN][1000 genomes]
rs74026912	0.86[ASN][1000 genomes]
rs74026913	0.87[ASN][1000 genomes]
rs74026918	0.81[ASN][1000 genomes]
rs74026926	0.80[ASN][1000 genomes]
rs8029163	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8035526	0.90[ASN][1000 genomes]
rs883627	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9806326	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1040430	chr15:77584375-77676957	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1836778	chr15:77608747-77694607	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1795063	chr15:77628696-77697976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35651077	TSPAN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77620000-77645200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:77622000-77645200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:77627400-77657400	Weak transcription	Aorta	Aorta
4	chr15:77628200-77644600	Weak transcription	Right Atrium	heart
5	chr15:77628200-77655400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:77628200-77655600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:77628600-77646600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:77628800-77645200	Weak transcription	NHLF	lung
9	chr15:77628800-77645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:77630800-77641800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:77630800-77645000	Weak transcription	NHDF-Ad	bronchial
12	chr15:77631200-77641800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:77632200-77654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:77634200-77644200	Weak transcription	Fetal Intestine Small	intestine
15	chr15:77635000-77655400	Weak transcription	HSMM	muscle
16	chr15:77635000-77657400	Weak transcription	Fetal Intestine Large	intestine
17	chr15:77635200-77655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:77635400-77642000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:77635400-77645200	Weak transcription	HSMMtube	muscle
20	chr15:77635600-77643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:77635800-77644600	Weak transcription	Ovary	ovary
22	chr15:77636600-77645600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:77636800-77658400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:77637000-77643200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:77637800-77640000	Enhancers	Brain Substantia Nigra	brain
27	chr15:77637800-77649200	Weak transcription	Fetal Stomach	stomach
28	chr15:77638400-77639800	Strong transcription	Primary B cells from cord blood	blood
29	chr15:77638400-77639800	Enhancers	Brain Cingulate Gyrus	brain
30	chr15:77638600-77640000	Enhancers	Brain Anterior Caudate	brain
31	chr15:77638800-77639800	Enhancers	Brain Hippocampus Middle	brain
32	chr15:77638800-77639800	Enhancers	Psoas Muscle	Psoas
33	chr15:77638800-77639800	Enhancers	Small Intestine	intestine
34	chr15:77638800-77640000	Enhancers	Brain Angular Gyrus	brain
35	chr15:77638800-77640400	Enhancers	HepG2	liver
36	chr15:77638800-77640600	Enhancers	Fetal Heart	heart
37	chr15:77639000-77641000	Enhancers	HUVEC	blood vessel
38	chr15:77639000-77644400	Weak transcription	Left Ventricle	heart
39	chr15:77639200-77639800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:77639200-77639800	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:77639200-77639800	Enhancers	Right Ventricle	heart
42	chr15:77639200-77639800	Enhancers	Stomach Mucosa	stomach
43	chr15:77639200-77639800	Enhancers	Dnd41	blood
44	chr15:77639200-77640000	Enhancers	HMEC	breast
45	chr15:77639200-77640000	Enhancers	Osteobl	bone
46	chr15:77639200-77641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:77639200-77659000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:77639400-77639800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:77639400-77639800	Enhancers	Fetal Lung	lung
50	chr15:77639400-77639800	Enhancers	Fetal Thymus	thymus

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