Variant report

Variant	rs1812599
Chromosome Location	chr6:37852115-37852116
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	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10456096	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10456097	0.81[EUR][1000 genomes]
rs10807188	0.87[EUR][1000 genomes]
rs1187422	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1187423	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12192182	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198907	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12200258	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12206818	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12211248	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12211981	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12213835	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13210701	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13214465	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs171831	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2132597	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2395686	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs259673	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259684	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259686	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259689	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259690	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259691	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259695	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259713	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259715	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259716	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645107	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645113	0.81[EUR][1000 genomes]
rs2645116	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2645120	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2645127	0.83[EUR][1000 genomes]
rs2645128	0.83[EUR][1000 genomes]
rs2842500	0.81[EUR][1000 genomes]
rs2842517	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2842527	0.82[EUR][1000 genomes]
rs2842529	0.81[EUR][1000 genomes]
rs34871463	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56098839	0.81[EUR][1000 genomes]
rs6458027	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458028	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458029	0.83[EUR][1000 genomes]
rs7755089	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9296232	0.88[EUR][1000 genomes]
rs9394460	0.88[EUR][1000 genomes]
rs9647619	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966705	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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
9	esv3472486	chr6:37849274-37853972	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3528238	chr6:37850074-37853672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3528241	chr6:37850474-37853622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3472488	chr6:37850807-37852898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv991004	chr6:37851042-37852535	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv823674	chr6:37851042-37852535	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3528239	chr6:37851089-37852654	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3528242	chr6:37851111-37852684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3472484	chr6:37851116-37852681	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3528237	chr6:37851133-37852613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3472483	chr6:37851144-37852646	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3472487	chr6:37851148-37852649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3472481	chr6:37851160-37852602	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3528235	chr6:37851161-37852623	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3472482	chr6:37851211-37852581	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3528236	chr6:37851221-37852581	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3472489	chr6:37851225-37852579	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3528243	chr6:37851225-37852579	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv10807	chr6:37851244-37852590	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:37837200-37856000	Weak transcription	NHEK	skin
3	chr6:37840200-37855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:37841200-37852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
8	chr6:37846000-37857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
10	chr6:37846400-37857000	Weak transcription	Right Atrium	heart
11	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:37846600-37856800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:37846800-37857000	Weak transcription	Right Ventricle	heart
14	chr6:37848200-37854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:37848400-37854200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:37849200-37856600	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:37849200-37857000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:37849400-37853000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:37849400-37854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:37849400-37856400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:37849600-37854200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:37850000-37857000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:37850200-37854000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:37850200-37856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:37850200-37856600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:37850200-37857000	Weak transcription	Brain Angular Gyrus	brain
27	chr6:37850200-37860600	Weak transcription	GM12878-XiMat	blood
28	chr6:37850200-37861600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:37850400-37853600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:37850400-37854000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:37850400-37855200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:37850400-37861600	Weak transcription	Fetal Stomach	stomach
33	chr6:37850400-37861800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:37850600-37856800	Weak transcription	Left Ventricle	heart
35	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
36	chr6:37850600-37869200	Weak transcription	Lung	lung
37	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
38	chr6:37850800-37854000	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:37850800-37856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:37850800-37856800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:37850800-37865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:37851000-37853000	Weak transcription	Psoas Muscle	Psoas
43	chr6:37851000-37853200	Weak transcription	Esophagus	oesophagus
44	chr6:37851000-37854400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:37851000-37855600	Weak transcription	Liver	Liver
46	chr6:37851000-37856600	Weak transcription	HSMM	muscle
47	chr6:37851000-37856800	Weak transcription	A549	lung
48	chr6:37851000-37861400	Weak transcription	Fetal Intestine Small	intestine
49	chr6:37851000-37861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:37851000-37861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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