Variant report

Variant	rs2776986
Chromosome Location	chr13:30080643-30080644
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	chr13:30074865..30078261-chr13:30079505..30082420,3	K562	blood:
2	chr13:30080252..30082787-chr13:30168162..30169965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12427581	0.82[JPT][hapmap]
rs12428751	0.82[JPT][hapmap]
rs17073661	1.00[JPT][hapmap]
rs17660515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2277452	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482087	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482089	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482090	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482097	0.92[ASN][1000 genomes]
rs2490264	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490267	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490268	0.92[ASN][1000 genomes]
rs2776952	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776953	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776955	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776956	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776958	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776960	0.82[YRI][hapmap]
rs2776978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776979	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776980	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776981	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776983	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776984	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776985	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802240	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802243	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802244	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989592	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3011618	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011619	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011620	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011622	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011623	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3011624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3011625	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3013640	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3013641	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:30071000-30128800	Strong transcription	Dnd41	blood
5	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:30074800-30082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:30074800-30084800	Weak transcription	Gastric	stomach
8	chr13:30077000-30080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:30077600-30081400	Weak transcription	HSMM	muscle
10	chr13:30077600-30081800	Weak transcription	Fetal Brain Male	brain
11	chr13:30077600-30082000	Weak transcription	Brain Germinal Matrix	brain
12	chr13:30077600-30082000	Weak transcription	Fetal Brain Female	brain
13	chr13:30077600-30082200	Weak transcription	Esophagus	oesophagus
14	chr13:30077800-30081000	Weak transcription	Ovary	ovary
15	chr13:30077800-30085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:30077800-30085600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:30077800-30087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:30078000-30082200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:30078000-30084800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:30078000-30086000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:30078400-30081000	Weak transcription	Left Ventricle	heart
22	chr13:30078400-30081200	Weak transcription	NHDF-Ad	bronchial
23	chr13:30078400-30081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30078400-30082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:30078400-30082600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:30078600-30082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:30078600-30082400	Weak transcription	Right Ventricle	heart
28	chr13:30079000-30085800	Weak transcription	Primary T cells from cord blood	blood
29	chr13:30079200-30082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:30079600-30087200	Weak transcription	HUVEC	blood vessel
31	chr13:30079800-30081000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:30079800-30081000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr13:30079800-30081200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:30079800-30082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:30079800-30084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:30080000-30084200	Weak transcription	NHEK	skin
37	chr13:30080000-30084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:30080000-30084800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr13:30080000-30085000	Weak transcription	HMEC	breast
40	chr13:30080000-30085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:30080000-30087200	Weak transcription	Aorta	Aorta
42	chr13:30080200-30081000	Weak transcription	Fetal Heart	heart
43	chr13:30080200-30081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr13:30080200-30084200	Weak transcription	Thymus	Thymus
45	chr13:30080200-30087200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:30080200-30087800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:30080400-30081800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr13:30080400-30083000	Enhancers	Pancreas	Pancrea
49	chr13:30080400-30083200	Enhancers	HSMMtube	muscle
50	chr13:30080400-30085600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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