Variant report

Variant	rs6933973
Chromosome Location	chr6:119587210-119587211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119585860..119588470-chr6:119710042..119712642,2	K562	blood:
2	chr6:119584481..119586279-chr6:119586343..119589172,2	K562	blood:
3	chr6:119585952..119589084-chr6:119590511..119594109,4	K562	blood:
4	chr6:119585891..119588843-chr6:119590511..119597108,7	K562	blood:
5	chr6:119585220..119587892-chr6:119594736..119597108,2	K562	blood:
6	chr6:119579699..119582864-chr6:119585578..119588407,3	K562	blood:

Variant related genes	Relation type
ENSG00000216316	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17442217	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442238	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442343	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442478	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442505	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17514202	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17526989	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17527003	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17527153	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17536339	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17619366	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038768	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28635805	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798611	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56320899	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56926474	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6569064	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6911026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926266	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6930319	0.88[AFR][1000 genomes]
rs6941142	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941514	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73769010	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73769011	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7740521	0.97[EUR][1000 genomes]
rs7740969	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7743309	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7748940	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7763451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7763610	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7767940	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9481896	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489644	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489646	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489647	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489648	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489649	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489651	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489652	0.86[EUR][1000 genomes]
rs9489655	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489657	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489658	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489659	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
4	chr6:119558800-119602000	Weak transcription	Gastric	stomach
5	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
6	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:119563400-119588000	Weak transcription	Fetal Kidney	kidney
8	chr6:119563400-119590200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:119569200-119589800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:119569200-119590000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:119569200-119590400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:119569200-119591600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:119569200-119591600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:119569400-119590000	Weak transcription	Placenta	Placenta
16	chr6:119569400-119590200	Weak transcription	Left Ventricle	heart
17	chr6:119569400-119591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:119574200-119589800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:119577000-119588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:119578600-119588800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:119579600-119588200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:119580400-119588800	Weak transcription	Small Intestine	intestine
23	chr6:119581800-119590000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:119582000-119587800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:119582800-119591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:119583000-119587800	Weak transcription	Fetal Lung	lung
27	chr6:119583200-119590200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:119583400-119588600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:119583400-119589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:119583400-119589600	Weak transcription	Pancreas	Pancrea
31	chr6:119583400-119590000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:119583400-119590200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:119583400-119590600	Weak transcription	Lung	lung
34	chr6:119583400-119590800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:119583400-119591600	Weak transcription	NHDF-Ad	bronchial
36	chr6:119584000-119588200	Weak transcription	Liver	Liver
37	chr6:119584200-119590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:119584400-119588800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:119584400-119588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:119584400-119589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:119584800-119590200	Weak transcription	Primary B cells from cord blood	blood
42	chr6:119585400-119588800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:119585600-119591000	Genic enhancers	HepG2	liver
44	chr6:119586000-119588800	Weak transcription	K562	blood
45	chr6:119586200-119588600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:119586400-119591200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:119586600-119590000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:119587200-119590200	Weak transcription	Ovary	ovary
49	chr6:119587200-119591800	Weak transcription	Primary B cells from peripheral blood	blood

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