Variant report

Variant	rs74027705
Chromosome Location	chr15:78293080-78293081
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	CTCF	chr15:78292185-78293134	SK-N-SH	brain:	n/a	chr15:78292671-78292684
2	SMC3	chr15:78292239-78293392	SK-N-SH	brain:	n/a	chr15:78293270-78293277

No.	Distal block	Cell Line	Cell type
1	chr15:78291946..78293315-chr15:78400365..78401521,34	MCF-7	breast:
2	chr15:78290983..78293923-chr15:78293965..78296117,2	MCF-7	breast:
3	chr15:78292095..78293104-chr15:78399979..78401592,9	MCF-7	breast:

Variant related genes	Relation type
TBC1D2B	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10519182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11639164	0.86[AFR][1000 genomes]
rs11854491	0.87[AMR][1000 genomes]
rs12102130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329101	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969367	0.81[AFR][1000 genomes]
rs16969405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969414	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969447	0.81[AFR][1000 genomes]
rs1985487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28394000	0.86[AFR][1000 genomes]
rs28417785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28441175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28470811	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28491609	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28491820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28519575	0.86[AFR][1000 genomes]
rs28526757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579273	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28581571	0.99[AFR][1000 genomes]
rs28590577	0.81[AFR][1000 genomes]
rs28591625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647720	0.99[AFR][1000 genomes]
rs28674965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4991997	0.88[EUR][1000 genomes]
rs55663439	0.88[EUR][1000 genomes]
rs55930913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58098690	0.88[EUR][1000 genomes]
rs58117418	0.88[EUR][1000 genomes]
rs58247186	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7167778	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029743	0.88[EUR][1000 genomes]
rs74029754	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7495639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78280200-78295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78283400-78293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:78283400-78296400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:78283400-78305000	Weak transcription	K562	blood
5	chr15:78283600-78294800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:78283600-78300800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:78283800-78301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:78284600-78310200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:78284800-78296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:78285400-78295800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:78285400-78304400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:78285800-78299200	Strong transcription	Fetal Intestine Large	intestine
13	chr15:78285800-78309600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:78286000-78310400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:78286400-78295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:78286600-78293400	Weak transcription	Brain Germinal Matrix	brain
17	chr15:78286600-78293400	Weak transcription	Small Intestine	intestine
18	chr15:78286600-78296400	Strong transcription	Fetal Intestine Small	intestine
19	chr15:78286800-78295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:78287000-78293400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr15:78287000-78316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:78287600-78293400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:78287600-78295400	Weak transcription	Psoas Muscle	Psoas
24	chr15:78287800-78297400	Weak transcription	A549	lung
25	chr15:78288000-78294800	Weak transcription	HUVEC	blood vessel
26	chr15:78288400-78311000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr15:78288600-78297000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:78288600-78303000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:78288600-78304400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:78288600-78309600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:78288600-78309600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:78288600-78309600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:78288600-78309600	Strong transcription	Thymus	Thymus
34	chr15:78288800-78293200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr15:78288800-78295200	Weak transcription	HMEC	breast
36	chr15:78288800-78304800	Weak transcription	Fetal Kidney	kidney
37	chr15:78288800-78309600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:78288800-78310400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr15:78289000-78293200	Weak transcription	NHEK	skin
40	chr15:78289000-78295600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:78289000-78295800	Strong transcription	Brain Hippocampus Middle	brain
42	chr15:78289000-78309800	Strong transcription	Primary T cells from cord blood	blood
43	chr15:78289400-78293600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr15:78289400-78294200	Strong transcription	Esophagus	oesophagus
45	chr15:78289400-78296000	Weak transcription	Fetal Brain Male	brain
46	chr15:78289400-78299200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:78289400-78309800	Strong transcription	Dnd41	blood
48	chr15:78289600-78293400	Weak transcription	NHDF-Ad	bronchial
49	chr15:78289600-78293600	Weak transcription	Left Ventricle	heart
50	chr15:78289600-78294400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links