Variant report

Variant	rs12210968
Chromosome Location	chr6:127596985-127596986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127593587..127596106-chr6:127596844..127600641,3	MCF-7	breast:
2	chr6:127596682..127600965-chr6:127601180..127603432,5	K562	blood:
3	chr6:127587825..127589586-chr6:127595902..127598000,2	MCF-7	breast:
4	chr6:127589767..127592287-chr6:127596976..127599452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118518	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10457491	1.00[JPT][hapmap]
rs10457492	1.00[JPT][hapmap]
rs11154391	1.00[JPT][hapmap]
rs11154395	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154396	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154405	1.00[JPT][hapmap]
rs11556354	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11961994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12199451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212752	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12529077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192350	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215850	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2875981	1.00[YRI][hapmap]
rs3756993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823042	1.00[JPT][hapmap]
rs4502958	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933893	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7758718	1.00[JPT][hapmap]
rs7775667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12210968	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127589200-127602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:127589400-127597000	Weak transcription	Stomach Mucosa	stomach
3	chr6:127589400-127601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:127589400-127607800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:127589600-127607800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:127589800-127603800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:127589800-127612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:127590000-127601400	Weak transcription	Placenta	Placenta
9	chr6:127590400-127601400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:127590400-127602600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:127590400-127606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:127590400-127607800	Weak transcription	Thymus	Thymus
13	chr6:127590600-127597400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:127590600-127601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:127590600-127601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:127590600-127601600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:127590600-127602000	Weak transcription	HMEC	breast
18	chr6:127590600-127602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:127590600-127602400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:127590600-127602400	Weak transcription	Fetal Intestine Large	intestine
21	chr6:127590600-127602600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:127590600-127607800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:127590800-127600800	Weak transcription	GM12878-XiMat	blood
24	chr6:127590800-127601400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:127590800-127601600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:127590800-127601800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:127590800-127601800	Weak transcription	NH-A	brain
28	chr6:127590800-127602200	Weak transcription	HSMM	muscle
29	chr6:127590800-127602400	Weak transcription	NHLF	lung
30	chr6:127590800-127602600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:127590800-127602600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:127590800-127602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:127590800-127602600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:127590800-127602600	Weak transcription	HSMMtube	muscle
35	chr6:127590800-127602600	Weak transcription	Osteobl	bone
36	chr6:127590800-127608200	Weak transcription	A549	lung
37	chr6:127591000-127597400	Weak transcription	Primary T cells from cord blood	blood
38	chr6:127591000-127597400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:127591000-127601600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:127591000-127602400	Weak transcription	Fetal Kidney	kidney
41	chr6:127591000-127602600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:127591000-127602600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:127591000-127602800	Weak transcription	Brain Germinal Matrix	brain
44	chr6:127591000-127603000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:127591400-127601000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:127591400-127601200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:127591400-127601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:127591400-127602200	Weak transcription	Dnd41	blood
49	chr6:127591400-127602600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:127591400-127603000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links