Variant report

Variant	rs12195012
Chromosome Location	chr6:36887713-36887714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36886112..36887958-chr6:36978149..36979897,2	MCF-7	breast:
2	chr6:36879267..36882648-chr6:36885620..36888336,3	K562	blood:
3	chr6:36885661..36888291-chr6:36984443..36986353,2	MCF-7	breast:
4	chr6:36885599..36889594-chr6:36935719..36938209,3	MCF-7	breast:
5	chr6:36884368..36885933-chr6:36886588..36889319,2	K562	blood:
6	chr6:36885468..36888392-chr6:36943726..36946366,2	MCF-7	breast:
7	chr6:36884977..36888283-chr6:36895013..36898238,3	K562	blood:
8	chr6:36873455..36875105-chr6:36887491..36889337,2	K562	blood:
9	chr6:36883006..36885868-chr6:36886588..36888530,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10456445	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10456447	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10456448	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947646	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947648	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11964396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12111266	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12111291	0.90[ASN][1000 genomes]
rs12191780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12211502	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12215873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524018	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12524422	0.83[CEU][hapmap]
rs12524649	0.90[ASN][1000 genomes]
rs12525180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12525540	0.83[CEU][hapmap]
rs12529199	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12529769	0.90[ASN][1000 genomes]
rs17374068	0.83[CEU][hapmap]
rs17552561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41272192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41408445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4348312	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4714013	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs4714022	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55928881	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56240344	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56302344	0.90[ASN][1000 genomes]
rs66474948	0.90[ASN][1000 genomes]
rs72846078	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7745555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7762601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:36866200-36896400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:36867000-36897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:36870800-36889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:36871000-36888400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:36877800-36896000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:36879400-36894000	Strong transcription	Fetal Brain Female	brain
8	chr6:36879600-36894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:36879600-36895400	Strong transcription	Brain Germinal Matrix	brain
10	chr6:36880000-36892000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr6:36880200-36887800	Strong transcription	Adipose Nuclei	Adipose
12	chr6:36880200-36893800	Strong transcription	K562	blood
13	chr6:36880400-36888000	Strong transcription	Brain Angular Gyrus	brain
14	chr6:36880600-36893600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:36880600-36900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:36880800-36889800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:36881000-36892000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:36881000-36894800	Weak transcription	Fetal Brain Male	brain
19	chr6:36881200-36889600	Strong transcription	Brain Hippocampus Middle	brain
20	chr6:36881400-36893000	Strong transcription	Spleen	Spleen
21	chr6:36881400-36893600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:36881400-36893800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:36881400-36896200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:36881600-36889600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr6:36881600-36891200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:36882000-36891600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:36882000-36893800	Strong transcription	Liver	Liver
28	chr6:36882200-36889200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:36882200-36891000	Strong transcription	Thymus	Thymus
30	chr6:36882200-36892000	Strong transcription	Brain Anterior Caudate	brain
31	chr6:36882200-36894000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:36882400-36891200	Weak transcription	HUVEC	blood vessel
33	chr6:36882400-36891800	Strong transcription	Primary T cells from cord blood	blood
34	chr6:36882400-36893000	Strong transcription	Fetal Intestine Large	intestine
35	chr6:36882400-36893600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:36882400-36893800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:36882400-36894800	Strong transcription	Fetal Intestine Small	intestine
38	chr6:36882400-36895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:36882400-36896800	Weak transcription	Hela-S3	cervix
40	chr6:36882600-36889800	Strong transcription	Primary B cells from cord blood	blood
41	chr6:36882600-36893800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:36882600-36893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:36882600-36893800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:36882600-36894000	Strong transcription	Dnd41	blood
45	chr6:36882800-36889400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr6:36882800-36891400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr6:36882800-36892800	Weak transcription	Fetal Kidney	kidney
48	chr6:36882800-36893800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:36883000-36893600	Weak transcription	A549	lung
50	chr6:36883200-36889200	Genic enhancers	Fetal Muscle Leg	muscle

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