Variant report

Variant	rs12210312
Chromosome Location	chr6:101170849-101170850
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	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
2	chr6:101169269..101170858-chr6:101198475..101201217,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1039031	0.99[ASN][1000 genomes]
rs1039032	0.99[ASN][1000 genomes]
rs1039033	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10872622	0.99[ASN][1000 genomes]
rs10872623	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10872628	0.81[ASN][1000 genomes]
rs11155596	0.81[ASN][1000 genomes]
rs11155606	0.82[ASN][1000 genomes]
rs11155610	0.82[ASN][1000 genomes]
rs11756783	0.91[EUR][1000 genomes]
rs12189562	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12190574	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12199888	0.81[ASN][1000 genomes]
rs12209887	0.97[ASN][1000 genomes]
rs12215909	0.95[ASN][1000 genomes]
rs12216304	0.82[ASN][1000 genomes]
rs12525128	0.91[EUR][1000 genomes]
rs12526352	0.91[EUR][1000 genomes]
rs13201267	0.88[EUR][1000 genomes]
rs13208757	0.96[ASN][1000 genomes]
rs151640	0.96[ASN][1000 genomes]
rs17190683	0.92[EUR][1000 genomes]
rs17794439	0.87[EUR][1000 genomes]
rs2036052	0.81[ASN][1000 genomes]
rs2101814	0.81[EUR][1000 genomes]
rs2134044	0.89[EUR][1000 genomes]
rs239190	0.81[ASN][1000 genomes]
rs239193	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs239194	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239195	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239196	0.92[EUR][1000 genomes]
rs239197	0.81[ASN][1000 genomes]
rs239198	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs239199	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239201	0.81[ASN][1000 genomes]
rs239203	0.81[ASN][1000 genomes]
rs239204	0.81[ASN][1000 genomes]
rs239206	0.81[ASN][1000 genomes]
rs239207	0.81[ASN][1000 genomes]
rs239211	0.81[ASN][1000 genomes]
rs239212	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239219	0.81[ASN][1000 genomes]
rs239234	0.94[ASN][1000 genomes]
rs239236	0.96[ASN][1000 genomes]
rs240111	0.91[ASN][1000 genomes]
rs240149	0.94[ASN][1000 genomes]
rs240151	0.94[ASN][1000 genomes]
rs240152	0.94[ASN][1000 genomes]
rs370757	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3818233	0.90[EUR][1000 genomes]
rs41288423	0.99[ASN][1000 genomes]
rs4329121	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs454747	0.81[ASN][1000 genomes]
rs6570922	0.81[ASN][1000 genomes]
rs6903665	0.97[EUR][1000 genomes]
rs6904959	0.97[ASN][1000 genomes]
rs6907240	0.81[ASN][1000 genomes]
rs6907444	0.99[ASN][1000 genomes]
rs6916468	0.97[ASN][1000 genomes]
rs6928418	0.91[EUR][1000 genomes]
rs6937520	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7356804	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7452753	0.80[EUR][1000 genomes]
rs7740826	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7759463	0.85[EUR][1000 genomes]
rs9373571	0.91[EUR][1000 genomes]
rs9373574	0.93[EUR][1000 genomes]
rs9377193	0.86[EUR][1000 genomes]
rs9386233	0.97[EUR][1000 genomes]
rs9390502	0.86[EUR][1000 genomes]
rs9390626	0.93[EUR][1000 genomes]
rs9399641	0.91[EUR][1000 genomes]
rs9399652	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9399656	0.91[EUR][1000 genomes]
rs9403962	0.89[EUR][1000 genomes]
rs9403997	0.96[EUR][1000 genomes]
rs9404022	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
2	chr6:101142400-101189600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:101145400-101175600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:101147800-101190000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:101148200-101172200	Weak transcription	HSMMtube	muscle
6	chr6:101148200-101175600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:101148200-101189600	Weak transcription	Placenta	Placenta
8	chr6:101148600-101173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:101148600-101177800	Weak transcription	Fetal Lung	lung
10	chr6:101148600-101184400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:101149400-101174400	Weak transcription	Esophagus	oesophagus
12	chr6:101149600-101190000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:101149800-101175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:101150000-101172400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:101150000-101174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:101150200-101190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:101150200-101190000	Weak transcription	Ovary	ovary
18	chr6:101150200-101190600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:101150400-101175600	Weak transcription	NHEK	skin
20	chr6:101150600-101172000	Weak transcription	GM12878-XiMat	blood
21	chr6:101151000-101174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:101151400-101185600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:101156000-101190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:101157400-101190000	Weak transcription	HepG2	liver
25	chr6:101159600-101172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:101161000-101171800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:101161400-101174800	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:101161600-101185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:101162000-101189600	Weak transcription	HMEC	breast
30	chr6:101162400-101172000	Weak transcription	Primary T cells from cord blood	blood
31	chr6:101163000-101172000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:101163000-101173200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:101163200-101179600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:101163600-101172400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:101164600-101190200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:101164600-101190200	Weak transcription	Fetal Thymus	thymus
37	chr6:101165000-101174600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:101166000-101172400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:101166000-101172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:101166200-101211000	Weak transcription	NH-A	brain
41	chr6:101166400-101172000	Weak transcription	Primary B cells from cord blood	blood
42	chr6:101168200-101171000	Strong transcription	Dnd41	blood
43	chr6:101168400-101174600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:101168400-101174600	Weak transcription	NHDF-Ad	bronchial
45	chr6:101168600-101172200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:101168600-101174600	Weak transcription	NHLF	lung
47	chr6:101168600-101174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:101168600-101174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:101168600-101175000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:101168600-101175200	Weak transcription	Adipose Nuclei	Adipose

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