Variant report

Variant	rs58731969
Chromosome Location	chr6:119130221-119130222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119129761..119131785-chr6:119132717..119134280,2	MCF-7	breast:
2	chr6:119128908..119130462-chr6:119213970..119215913,2	MCF-7	breast:
3	chr6:119128642..119130899-chr6:119172400..119174088,2	K562	blood:

Variant related genes	Relation type
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55687209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55856250	1.00[AMR][1000 genomes]
rs60397260	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6925138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927108	1.00[AMR][1000 genomes]
rs6938025	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73766829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73766830	0.98[AFR][1000 genomes]
rs73766832	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73767211	1.00[AMR][1000 genomes]
rs73767215	1.00[AMR][1000 genomes]
rs73768550	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
2	chr6:119113800-119136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119116600-119136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:119121800-119130600	Weak transcription	Right Atrium	heart
5	chr6:119121800-119133000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:119121800-119134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:119121800-119134000	Weak transcription	HSMM	muscle
8	chr6:119121800-119134000	Weak transcription	Osteobl	bone
9	chr6:119121800-119136000	Weak transcription	Fetal Intestine Large	intestine
10	chr6:119122000-119136400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
12	chr6:119122200-119130400	Weak transcription	Placenta	Placenta
13	chr6:119122200-119130400	Weak transcription	K562	blood
14	chr6:119122200-119131800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:119122200-119133000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:119122200-119135000	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:119122200-119136000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:119122200-119136000	Weak transcription	Fetal Stomach	stomach
19	chr6:119122200-119136200	Weak transcription	Esophagus	oesophagus
20	chr6:119122200-119136600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:119122400-119136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:119122400-119136000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:119122400-119136200	Weak transcription	Pancreas	Pancrea
25	chr6:119122400-119136200	Weak transcription	HepG2	liver
26	chr6:119122400-119136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:119122600-119136200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain
30	chr6:119125600-119136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:119125600-119143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:119125800-119134200	Weak transcription	NHEK	skin
33	chr6:119126000-119131600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:119126000-119134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:119126200-119130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:119126200-119130600	Weak transcription	Left Ventricle	heart
37	chr6:119126200-119138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:119128400-119130400	Weak transcription	Spleen	Spleen
39	chr6:119128600-119131800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
41	chr6:119128800-119133000	Weak transcription	Fetal Kidney	kidney
42	chr6:119129200-119131800	Weak transcription	HSMMtube	muscle
43	chr6:119129400-119130800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:119129400-119131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:119129400-119131400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:119129400-119132000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:119129400-119132400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr6:119129600-119130400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:119129600-119130600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:119129600-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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