Variant report

Variant	rs6734153
Chromosome Location	chr2:37316351-37316352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37311131..37313325-chr2:37314182..37316886,3	MCF-7	breast:
2	chr2:37310057..37313374-chr2:37313742..37317078,6	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction
ENSG00000152133	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10177315	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194972	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11892180	1.00[ASN][1000 genomes]
rs11894496	1.00[ASN][1000 genomes]
rs13388882	1.00[ASN][1000 genomes]
rs13425846	1.00[ASN][1000 genomes]
rs2307472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2307474	1.00[ASN][1000 genomes]
rs2307483	1.00[CHB][hapmap]
rs2372443	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373114	1.00[CHB][hapmap]
rs2373188	1.00[ASN][1000 genomes]
rs2540993	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs2706807	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706808	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3856498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233920	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648156	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648158	1.00[ASN][1000 genomes]
rs4648160	1.00[ASN][1000 genomes]
rs4648166	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648169	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648170	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648171	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648190	1.00[ASN][1000 genomes]
rs4648191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648196	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648202	1.00[CHB][hapmap]
rs4648212	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4648216	1.00[ASN][1000 genomes]
rs4648218	1.00[ASN][1000 genomes]
rs4648219	1.00[ASN][1000 genomes]
rs4648234	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648237	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670653	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4670654	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs55679447	1.00[ASN][1000 genomes]
rs55939105	1.00[ASN][1000 genomes]
rs62621388	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544053	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6544054	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6544055	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6709976	0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs6720519	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734269	0.91[AFR][1000 genomes]
rs6735749	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6738111	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6740307	1.00[ASN][1000 genomes]
rs6743906	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs6758981	0.97[EUR][1000 genomes]
rs7568925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590377	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596489	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs759668	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs759669	1.00[ASN][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription 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	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6734153	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312000-37316800	Weak transcription	Spleen	Spleen
2	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:37312200-37320000	Weak transcription	Lung	lung
5	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
7	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:37312400-37316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:37312400-37316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:37312400-37316800	Weak transcription	Aorta	Aorta
11	chr2:37312400-37316800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:37312400-37317200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:37312400-37319400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:37312400-37320000	Weak transcription	Colonic Mucosa	Colon
15	chr2:37312400-37321200	Weak transcription	Right Ventricle	heart
16	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:37312600-37316600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:37312600-37316600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:37312600-37316800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:37312600-37316800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:37312600-37317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:37312600-37317000	Weak transcription	HSMMtube	muscle
24	chr2:37312600-37319000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:37312600-37319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:37312600-37320000	Weak transcription	Ovary	ovary
27	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:37312800-37316800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:37312800-37321000	Weak transcription	Fetal Brain Male	brain
32	chr2:37312800-37321400	Weak transcription	Fetal Kidney	kidney
33	chr2:37313000-37316600	Weak transcription	Liver	Liver
34	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
35	chr2:37313200-37316600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:37313200-37316800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:37313200-37317000	Weak transcription	NHLF	lung
38	chr2:37313200-37320800	Weak transcription	Small Intestine	intestine
39	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
40	chr2:37313400-37316400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:37313400-37316800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:37313400-37316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:37313400-37316800	Weak transcription	Fetal Brain Female	brain
44	chr2:37313400-37316800	Weak transcription	Fetal Lung	lung
45	chr2:37313400-37316800	Weak transcription	HMEC	breast
46	chr2:37313400-37317000	Weak transcription	HUVEC	blood vessel
47	chr2:37313400-37317000	Weak transcription	K562	blood
48	chr2:37313400-37317400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:37313400-37318000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:37313400-37320000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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