Variant report

Variant	rs1992387
Chromosome Location	chr6:13431314-13431315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13426718..13428428-chr6:13429369..13431705,2	K562	blood:
2	chr6:13426005..13428428-chr6:13430205..13432759,2	K562	blood:
3	chr6:13430517..13435196-chr6:13435654..13440896,5	K562	blood:
4	chr6:13428050..13431790-chr6:13485555..13488109,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12527593	1.00[CHB][hapmap]
rs12528480	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs16874132	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874136	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874138	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874139	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874142	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874145	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874152	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874153	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16874155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2059804	0.82[JPT][hapmap]
rs511996	0.82[CEU][hapmap]
rs60004245	1.00[ASN][1000 genomes]
rs6914294	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6926083	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6931031	1.00[CHB][hapmap]
rs6936420	0.82[CEU][hapmap]
rs7739372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7740298	1.00[CHB][hapmap]
rs9357728	0.85[ASN][1000 genomes]
rs9370100	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs9474179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13422200-13432800	Weak transcription	NHDF-Ad	bronchial
2	chr6:13423400-13432200	Weak transcription	A549	lung
3	chr6:13423800-13431400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:13423800-13431400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:13423800-13433000	Weak transcription	Pancreas	Pancrea
6	chr6:13425200-13432200	Enhancers	Right Ventricle	heart
7	chr6:13426800-13431600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:13426800-13431600	Weak transcription	NHLF	lung
9	chr6:13426800-13431800	Weak transcription	NH-A	brain
10	chr6:13427000-13432000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:13427000-13432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:13427800-13432200	Weak transcription	Liver	Liver
13	chr6:13428200-13431800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:13428400-13432800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:13428600-13434400	Enhancers	Right Atrium	heart
16	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:13429000-13431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:13429000-13434000	Weak transcription	Colonic Mucosa	Colon
19	chr6:13429000-13436000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:13429200-13433200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:13429200-13436200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:13429400-13431800	Weak transcription	Fetal Brain Female	brain
23	chr6:13429400-13432200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:13429400-13432600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:13429400-13434600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:13429600-13431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:13429600-13432600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:13429600-13432600	Weak transcription	Placenta	Placenta
29	chr6:13429600-13432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:13429600-13434200	Enhancers	Primary T cells from cord blood	blood
31	chr6:13429600-13435400	Weak transcription	Small Intestine	intestine
32	chr6:13429800-13431400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:13429800-13431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:13429800-13431600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:13429800-13431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:13429800-13431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:13429800-13431600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:13429800-13431600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:13429800-13431800	Weak transcription	K562	blood
40	chr6:13429800-13432000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:13429800-13432000	Weak transcription	Fetal Brain Male	brain
42	chr6:13429800-13432000	Weak transcription	Thymus	Thymus
43	chr6:13429800-13432600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:13429800-13432800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:13429800-13432800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:13429800-13432800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:13429800-13432800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:13429800-13433600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:13429800-13433600	Weak transcription	Fetal Heart	heart
50	chr6:13429800-13436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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