Variant report

Variant	rs707830
Chromosome Location	chr6:15332219-15332220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15241940..15245497-chr6:15330260..15333858,3	K562	blood:
2	chr6:15325527..15327943-chr6:15329707..15332701,2	K562	blood:

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1474587	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2282816	0.90[JPT][hapmap]
rs2282823	1.00[JPT][hapmap]
rs2299055	1.00[JPT][hapmap]
rs3915734	0.81[JPT][hapmap]
rs707828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707838	0.81[CHB][hapmap]
rs707839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs760658	0.90[JPT][hapmap]
rs760659	0.91[JPT][hapmap]
rs794775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs794776	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs794777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794779	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794784	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs794786	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs794788	0.81[CHB][hapmap]
rs794789	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs794792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794793	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs794795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794797	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9383048	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15319400-15335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:15323800-15337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:15324400-15332400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:15324600-15333000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:15324800-15333000	Enhancers	Primary B cells from cord blood	blood
6	chr6:15324800-15339800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:15325000-15332600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:15325400-15332400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:15325400-15333000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:15325600-15332800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:15325800-15333000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:15326400-15332400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:15326400-15332400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:15326600-15332400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:15326600-15333000	Enhancers	Brain Hippocampus Middle	brain
16	chr6:15326800-15333000	Enhancers	Brain Anterior Caudate	brain
17	chr6:15327200-15332400	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:15327800-15333800	Weak transcription	Fetal Brain Female	brain
19	chr6:15327800-15335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:15327800-15337200	Weak transcription	Pancreas	Pancrea
21	chr6:15327800-15375800	Weak transcription	Aorta	Aorta
22	chr6:15328000-15337400	Weak transcription	Stomach Mucosa	stomach
23	chr6:15328000-15340200	Weak transcription	Esophagus	oesophagus
24	chr6:15328000-15342000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:15328200-15340800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:15328600-15334400	Enhancers	Fetal Lung	lung
27	chr6:15328600-15334600	Enhancers	Brain Germinal Matrix	brain
28	chr6:15328800-15333000	Enhancers	Fetal Thymus	thymus
29	chr6:15329000-15332400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:15329000-15332400	Enhancers	Small Intestine	intestine
31	chr6:15329000-15332600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:15329000-15333000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:15329000-15333200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:15329000-15333600	Enhancers	Fetal Muscle Leg	muscle
35	chr6:15329200-15334800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:15329200-15335400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:15329200-15341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:15329600-15332800	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:15329800-15343600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:15330000-15332800	Enhancers	HSMMtube	muscle
41	chr6:15330000-15333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:15330000-15340400	Weak transcription	Fetal Intestine Small	intestine
43	chr6:15330200-15332800	Enhancers	HSMM	muscle
44	chr6:15330200-15335800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:15330200-15337200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:15330400-15332600	Weak transcription	Fetal Kidney	kidney
47	chr6:15330400-15333000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:15330600-15332400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:15330600-15337000	Weak transcription	Adipose Nuclei	Adipose
50	chr6:15330600-15337000	Weak transcription	Fetal Heart	heart

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