Variant report

Variant	rs12206818
Chromosome Location	chr6:37842244-37842245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37841525..37843246-chr6:37846742..37850050,4	MCF-7	breast:
2	chr6:37834905..37837847-chr6:37840827..37844123,3	MCF-7	breast:
3	chr6:37841197..37843157-chr6:37847837..37849901,2	K562	blood:
4	chr6:37831095..37834657-chr6:37839870..37842931,3	MCF-7	breast:
5	chr6:37786256..37787854-chr6:37839934..37842922,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10456096	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10456097	0.84[ASN][1000 genomes]
rs10807188	0.88[EUR][1000 genomes]
rs1187422	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187423	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192182	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12198907	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200258	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211248	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211981	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213835	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210701	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214465	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890277	0.81[ASN][1000 genomes]
rs171831	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812599	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132597	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2395686	0.87[EUR][1000 genomes]
rs259673	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259684	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs259686	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259689	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259690	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259691	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259695	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259713	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259715	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259716	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645107	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645113	0.84[ASN][1000 genomes]
rs2645116	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645120	0.88[ASN][1000 genomes]
rs2645127	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645128	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842500	0.84[ASN][1000 genomes]
rs2842517	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842527	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842529	0.80[ASN][1000 genomes]
rs34871463	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823566	0.84[ASN][1000 genomes]
rs56098839	0.84[ASN][1000 genomes]
rs6458027	0.88[EUR][1000 genomes]
rs6458028	0.88[EUR][1000 genomes]
rs6458029	0.83[EUR][1000 genomes]
rs7755089	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9296232	0.88[EUR][1000 genomes]
rs9394460	0.88[EUR][1000 genomes]
rs9647619	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966705	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37813600-37845200	Weak transcription	K562	blood
2	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
3	chr6:37831000-37846000	Weak transcription	Esophagus	oesophagus
4	chr6:37834000-37845800	Weak transcription	Spleen	Spleen
5	chr6:37834000-37846000	Weak transcription	Lung	lung
6	chr6:37834000-37849200	Weak transcription	Fetal Thymus	thymus
7	chr6:37834800-37845600	Weak transcription	Pancreas	Pancrea
8	chr6:37834800-37849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:37835200-37843400	Weak transcription	Small Intestine	intestine
10	chr6:37835200-37845000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:37835200-37845200	Weak transcription	Right Atrium	heart
12	chr6:37835200-37845600	Weak transcription	Thymus	Thymus
13	chr6:37835400-37842400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:37836000-37842400	Weak transcription	Liver	Liver
15	chr6:37836000-37844000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:37836200-37842600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:37836200-37843800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:37836400-37844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:37836400-37845000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:37836400-37845200	Weak transcription	Aorta	Aorta
21	chr6:37836400-37845400	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:37836400-37845800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:37836400-37846400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:37836400-37849000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:37836400-37849000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:37836400-37849400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:37836400-37849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:37836600-37844200	Weak transcription	Fetal Heart	heart
30	chr6:37836600-37844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:37836600-37844400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:37836600-37844400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:37836600-37844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:37836600-37845400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:37836600-37847800	Weak transcription	A549	lung
36	chr6:37836600-37849000	Weak transcription	Primary B cells from cord blood	blood
37	chr6:37836800-37845200	Weak transcription	HSMM	muscle
38	chr6:37837000-37849200	Weak transcription	HSMMtube	muscle
39	chr6:37837200-37845600	Weak transcription	NH-A	brain
40	chr6:37837200-37856000	Weak transcription	NHEK	skin
41	chr6:37837600-37845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:37837800-37844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:37838200-37845400	Weak transcription	Left Ventricle	heart
44	chr6:37838400-37846000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:37838600-37845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:37839600-37842800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:37839800-37845000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:37840000-37842400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:37840000-37844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:37840200-37843400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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