Variant report

Variant	rs9442911
Chromosome Location	chr6:74159624-74159625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:74159616-74159705	GM12891	blood:	n/a	n/a
2	CTCF	chr6:74159621-74159706	GM10266	blood:	n/a	n/a
3	CTCF	chr6:74159520-74159670	NB4	blood:	n/a	n/a
4	CTCF	chr6:74159611-74159757	Lung_OC	lung:	n/a	n/a
5	CTCF	chr6:74159589-74159707	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:74159609-74159707	GM20000	blood:	n/a	n/a
7	CTCF	chr6:74159520-74159670	GM12873	blood:	n/a	n/a
8	RAD21	chr6:74159573-74159773	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:74159604-74159716	GM10248	blood:	n/a	n/a
10	CTCF	chr6:74159560-74159710	HL-60	blood:	n/a	n/a
11	CTCF	chr6:74159584-74159746	GM19240	blood:	n/a	n/a
12	CTCF	chr6:74159534-74159830	GM12878	blood:	n/a	n/a
13	CTCF	chr6:74159604-74159706	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:74159596-74159715	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr6:74159580-74159730	GM12873	blood:	n/a	n/a
16	CTCF	chr6:74159594-74159713	GM12892	blood:	n/a	n/a
17	CTCF	chr6:74159614-74159722	GM19238	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74158484..74160884-chr6:74318973..74320604,2	MCF-7	breast:
2	chr6:74157393..74162572-chr6:74229200..74231801,6	MCF-7	breast:
3	chr6:74102482..74106495-chr6:74159619..74163030,5	MCF-7	breast:

No data

Variant related genes	Relation type
MB21D1	TF binding region
ENSG00000080007	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238464	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62440625	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62440626	0.83[EUR][1000 genomes]
rs9446906	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:74125400-74160800	Weak transcription	Gastric	stomach
3	chr6:74129000-74160600	Weak transcription	HSMMtube	muscle
4	chr6:74129200-74160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:74129800-74160200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:74129800-74160200	Weak transcription	NHLF	lung
7	chr6:74130000-74160600	Weak transcription	NHEK	skin
8	chr6:74130200-74160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:74130400-74160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:74130600-74160400	Weak transcription	Esophagus	oesophagus
11	chr6:74130600-74160800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:74131800-74160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:74132200-74160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:74132200-74160400	Weak transcription	Left Ventricle	heart
15	chr6:74132200-74160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:74133200-74160200	Weak transcription	Stomach Mucosa	stomach
17	chr6:74135200-74160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:74142400-74160800	Weak transcription	Liver	Liver
19	chr6:74144400-74160200	Weak transcription	Placenta	Placenta
20	chr6:74145000-74160800	Weak transcription	Pancreas	Pancrea
21	chr6:74146800-74160600	Weak transcription	Aorta	Aorta
22	chr6:74148000-74160800	Weak transcription	NH-A	brain
23	chr6:74149800-74160600	Weak transcription	Ovary	ovary
24	chr6:74150200-74160400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:74150200-74160600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:74150200-74160800	Weak transcription	Fetal Intestine Large	intestine
27	chr6:74151200-74160400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:74151600-74159800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:74151600-74160200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:74151600-74160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:74154800-74159800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:74154800-74160200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:74154800-74160200	Weak transcription	Fetal Lung	lung
34	chr6:74154800-74160200	Weak transcription	Thymus	Thymus
35	chr6:74155000-74160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:74155000-74160200	Weak transcription	HSMM	muscle
37	chr6:74155000-74160200	Weak transcription	Osteobl	bone
38	chr6:74155200-74160200	Weak transcription	HUVEC	blood vessel
39	chr6:74155400-74160000	Weak transcription	Fetal Thymus	thymus
40	chr6:74155400-74160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:74155400-74160200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:74155400-74160200	Weak transcription	NHDF-Ad	bronchial
43	chr6:74157800-74162200	Active TSS	GM12878-XiMat	blood
44	chr6:74158400-74159800	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:74158400-74159800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:74158600-74160000	Enhancers	Small Intestine	intestine
47	chr6:74158600-74160200	Enhancers	Primary B cells from cord blood	blood
48	chr6:74158600-74162600	Active TSS	Hela-S3	cervix
49	chr6:74158800-74160800	Weak transcription	Fetal Intestine Small	intestine
50	chr6:74159000-74160400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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