Variant report

Variant	rs12660993
Chromosome Location	chr6:101168137-101168138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
2	chr6:101141922..101144028-chr6:101167838..101169583,2	MCF-7	breast:
3	chr6:101159648..101161737-chr6:101167476..101169153,2	K562	blood:
4	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
5	chr6:101167975..101170318-chr6:101170858..101173669,2	MCF-7	breast:
6	chr6:101163027..101165840-chr6:101165855..101168378,2	K562	blood:
7	chr6:101162028..101164995-chr6:101165855..101170689,5	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10485138	1.00[AFR][1000 genomes]
rs10485140	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10485294	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10485295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10485297	0.83[AMR][1000 genomes]
rs12661291	1.00[AFR][1000 genomes]
rs12663536	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12664207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12664223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664256	1.00[AFR][1000 genomes]
rs12664278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12664920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12664950	1.00[AFR][1000 genomes]
rs12665824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1336246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17054315	0.83[AMR][1000 genomes]
rs17060852	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17060914	1.00[AFR][1000 genomes]
rs17060954	1.00[AFR][1000 genomes]
rs17060978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17060985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17061014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17061023	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17061060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17061113	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17061152	0.83[AMR][1000 genomes]
rs17061158	0.83[AMR][1000 genomes]
rs17061168	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061190	0.83[AMR][1000 genomes]
rs17061191	0.83[AMR][1000 genomes]
rs17061195	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061206	0.92[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17061234	0.92[CHB][hapmap];0.83[AMR][1000 genomes]
rs17061235	0.92[CHB][hapmap];0.83[AMR][1000 genomes]
rs17061236	0.83[AMR][1000 genomes]
rs17061242	0.83[AMR][1000 genomes]
rs34783327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6918004	1.00[YRI][hapmap]
rs72942958	1.00[ASN][1000 genomes]
rs768985	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886450	chr6:101018032-101168137	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886451	chr6:101018032-101172328	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886452	chr6:101018032-101192051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886453	chr6:101018032-101203051	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv886455	chr6:101049108-101203051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv604270	chr6:101058886-101196080	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv463991	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv604272	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv463992	chr6:101072307-101197953	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv604273	chr6:101072307-101197953	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv604274	chr6:101078718-101196080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101111200-101168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:101111800-101168200	Weak transcription	Osteobl	bone
3	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
4	chr6:101142400-101189600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:101145400-101175600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:101145600-101168200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:101145600-101169200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:101147800-101190000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:101148200-101172200	Weak transcription	HSMMtube	muscle
10	chr6:101148200-101175600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:101148200-101189600	Weak transcription	Placenta	Placenta
12	chr6:101148600-101173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:101148600-101177800	Weak transcription	Fetal Lung	lung
14	chr6:101148600-101184400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:101149400-101174400	Weak transcription	Esophagus	oesophagus
16	chr6:101149600-101168200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:101149600-101190000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:101149800-101175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:101150000-101172400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:101150000-101174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:101150200-101190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:101150200-101190000	Weak transcription	Ovary	ovary
23	chr6:101150200-101190600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:101150400-101175600	Weak transcription	NHEK	skin
25	chr6:101150600-101168200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:101150600-101170000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:101150600-101170000	Weak transcription	Fetal Intestine Large	intestine
28	chr6:101150600-101172000	Weak transcription	GM12878-XiMat	blood
29	chr6:101151000-101174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:101151400-101185600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:101156000-101190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:101157400-101168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:101157400-101190000	Weak transcription	HepG2	liver
34	chr6:101159600-101172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:101161000-101171800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:101161400-101174800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:101161600-101185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:101161800-101170400	Weak transcription	HSMM	muscle
39	chr6:101162000-101189600	Weak transcription	HMEC	breast
40	chr6:101162400-101172000	Weak transcription	Primary T cells from cord blood	blood
41	chr6:101162800-101168200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:101163000-101172000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:101163000-101173200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:101163200-101179600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:101163600-101172400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:101163800-101170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:101164000-101170400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:101164600-101190200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:101164600-101190200	Weak transcription	Fetal Thymus	thymus
50	chr6:101165000-101174600	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links