Variant report

Variant	rs60843189
Chromosome Location	chr7:40142642-40142643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:40142509-40143647	K562	blood:	n/a	n/a
2	UBTF	chr7:40142523-40142685	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40135569..40137778-chr7:40140510..40143010,2	MCF-7	breast:
2	chr7:40139705..40142810-chr7:40143193..40146222,3	K562	blood:

Variant related genes	Relation type
ENSG00000273444	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10452813	1.00[AMR][1000 genomes]
rs17171655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17496805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056774	1.00[AMR][1000 genomes]
rs61347989	1.00[AMR][1000 genomes]
rs7790445	1.00[AMR][1000 genomes]
rs7797349	1.00[AMR][1000 genomes]
rs7801937	1.00[AMR][1000 genomes]
rs7807200	1.00[AMR][1000 genomes]
rs7807318	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats 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
12	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40145200	Weak transcription	Aorta	Aorta
2	chr7:40134600-40148200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:40134600-40151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40134600-40151600	Weak transcription	Gastric	stomach
5	chr7:40134600-40159600	Weak transcription	Left Ventricle	heart
6	chr7:40134600-40161800	Weak transcription	Pancreas	Pancrea
7	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:40134600-40173200	Weak transcription	Lung	lung
9	chr7:40134800-40143400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:40134800-40148200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:40134800-40155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:40134800-40166800	Weak transcription	Fetal Stomach	stomach
13	chr7:40135000-40149000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:40135000-40152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:40135000-40157000	Weak transcription	HSMMtube	muscle
16	chr7:40135000-40166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
18	chr7:40135200-40147400	Weak transcription	Brain Germinal Matrix	brain
19	chr7:40135200-40153200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:40135200-40153800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:40135400-40143000	Weak transcription	Fetal Brain Female	brain
24	chr7:40135400-40146400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:40135600-40152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:40135800-40145800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:40135800-40146600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:40135800-40149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:40135800-40154400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:40136000-40148200	Weak transcription	GM12878-XiMat	blood
32	chr7:40136000-40151000	Weak transcription	HUVEC	blood vessel
33	chr7:40136000-40172200	Weak transcription	Osteobl	bone
34	chr7:40136200-40146400	Weak transcription	K562	blood
35	chr7:40136200-40146800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:40136200-40146800	Weak transcription	Fetal Intestine Large	intestine
37	chr7:40136200-40149200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:40136400-40150600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:40136600-40145600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:40136600-40168200	Weak transcription	Primary B cells from cord blood	blood
42	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
43	chr7:40137000-40166800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
45	chr7:40137600-40144800	Weak transcription	Hela-S3	cervix
46	chr7:40137600-40147800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:40137600-40148600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:40137600-40149400	Weak transcription	NHDF-Ad	bronchial
49	chr7:40137600-40149600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:40137600-40151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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