Variant report

Variant	rs10085205
Chromosome Location	chr6:44084883-44084884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44084290..44087287-chr6:44233720..44236514,2	K562	blood:
2	chr6:44076515..44082841-chr6:44082960..44087705,9	MCF-7	breast:
3	chr6:44084698..44087576-chr6:44213851..44216783,3	K562	blood:
4	chr6:44042412..44044221-chr6:44084102..44086584,2	K562	blood:
5	chr6:44084752..44087576-chr6:44214784..44216783,2	K562	blood:
6	chr6:44081901..44085348-chr6:44213567..44215363,3	MCF-7	breast:
7	chr6:44083043..44086342-chr6:44189537..44193690,3	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12526930	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015676	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2396166	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4334980	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4445056	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55772024	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922473	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742824	0.87[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs7743249	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769540	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773700	0.87[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs9472209	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10085205	MRPL14	Cis_1M	lymphoblastoid	RTeQTL
rs10085205	SLC22A7	cis	cerebellum	SCAN
rs10085205	TMEM63B	cis	cerebellum	SCAN
rs10085205	KLHDC3	cis	parietal	SCAN
rs10085205	MRPL14	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44067200-44085000	Strong transcription	Dnd41	blood
4	chr6:44071200-44086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:44074000-44086600	Strong transcription	Fetal Stomach	stomach
6	chr6:44077800-44086200	Genic enhancers	HepG2	liver
7	chr6:44078400-44085000	Weak transcription	Right Atrium	heart
8	chr6:44081800-44085400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:44081800-44087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:44081800-44093600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:44082000-44088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:44082000-44090800	Weak transcription	Spleen	Spleen
13	chr6:44082200-44085000	Weak transcription	A549	lung
14	chr6:44082200-44087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:44082200-44087800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:44082200-44087800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:44082200-44093600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:44082400-44087800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:44082400-44088000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:44082400-44090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:44082800-44089400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:44083000-44085200	Enhancers	Gastric	stomach
23	chr6:44083000-44085400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:44083000-44086200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:44083000-44086400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:44083000-44086800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:44083000-44087000	Enhancers	HUVEC	blood vessel
28	chr6:44083200-44086400	Genic enhancers	K562	blood
29	chr6:44083200-44093800	Weak transcription	Fetal Brain Male	brain
30	chr6:44083400-44085400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr6:44083400-44085600	Genic enhancers	Thymus	Thymus
32	chr6:44083400-44086400	Genic enhancers	Fetal Intestine Small	intestine
33	chr6:44083400-44086400	Genic enhancers	Fetal Thymus	thymus
34	chr6:44083400-44086600	Enhancers	Liver	Liver
35	chr6:44083400-44087600	Weak transcription	Brain Angular Gyrus	brain
36	chr6:44083400-44090400	Weak transcription	Fetal Kidney	kidney
37	chr6:44083600-44085000	Flanking Active TSS	NH-A	brain
38	chr6:44083600-44085200	Enhancers	Adipose Nuclei	Adipose
39	chr6:44083600-44085200	Enhancers	Fetal Lung	lung
40	chr6:44083600-44085400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:44083600-44090400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:44083600-44090800	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:44083600-44092600	Enhancers	HMEC	breast
44	chr6:44083800-44085000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:44083800-44085200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:44083800-44085400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:44083800-44085600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:44083800-44087800	Weak transcription	Lung	lung
49	chr6:44083800-44088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:44083800-44090400	Weak transcription	Brain Cingulate Gyrus	brain

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