Variant report

Variant	rs73471991
Chromosome Location	chr7:129595974-129595975
allele	A/G
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	MAFF	chr7:129595820-129596141	HepG2	liver:	n/a	chr7:129595978-129595992
2	MAFK	chr7:129595810-129596156	HepG2	liver:	n/a	chr7:129595978-129595992 chr7:129595975-129595995 chr7:129595977-129595993
3	MAFK	chr7:129595804-129596157	IMR90	lung:	n/a	chr7:129595978-129595992 chr7:129595975-129595995 chr7:129595977-129595993
4	MAFK	chr7:129595808-129596093	Hela-S3	cervix:	n/a	chr7:129595978-129595992 chr7:129595975-129595995 chr7:129595977-129595993
5	MAFK	chr7:129595443-129596125	K562	blood:	n/a	chr7:129595978-129595992 chr7:129595975-129595995 chr7:129595977-129595993
6	JUN	chr7:129595053-129596217	K562	blood:	n/a	n/a
7	MAFF	chr7:129595822-129596144	K562	blood:	n/a	chr7:129595978-129595992
8	MAFK	chr7:129595809-129596145	HepG2	liver:	n/a	chr7:129595978-129595992 chr7:129595975-129595995 chr7:129595977-129595993

No.	Distal block	Cell Line	Cell type
1	chr7:129587456..129589237-chr7:129595459..129597613,2	K562	blood:
2	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:
3	chr7:129589671..129594526-chr7:129595391..129600667,11	K562	blood:
4	chr7:129589671..129591820-chr7:129593971..129596891,3	K562	blood:

Variant related genes	Relation type
UBE2H	TF binding region
ENSG00000244036	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57085267	1.00[AMR][1000 genomes]
rs57351931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57534840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58432106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs6960765	1.00[AMR][1000 genomes]
rs73469778	1.00[AMR][1000 genomes]
rs73469787	1.00[AMR][1000 genomes]
rs73469788	1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AMR][1000 genomes]
rs73471913	1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471986	1.00[AMR][1000 genomes]
rs73471988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808364	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
3	chr7:129592800-129598400	Weak transcription	NHLF	lung
4	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129593000-129598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:129593200-129597800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:129593200-129598000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:129593200-129598000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:129593200-129598000	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:129593200-129598200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:129593200-129598200	Weak transcription	Fetal Heart	heart
12	chr7:129593200-129598200	Weak transcription	Fetal Intestine Large	intestine
13	chr7:129593200-129598200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:129593200-129598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:129593200-129598200	Weak transcription	HSMM	muscle
16	chr7:129593200-129598400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:129593200-129598400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:129593200-129598400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:129593400-129597600	Weak transcription	Placenta	Placenta
20	chr7:129593400-129597800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:129593400-129598000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:129593400-129598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:129593400-129598200	Weak transcription	Psoas Muscle	Psoas
24	chr7:129593400-129598400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:129593400-129598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:129594200-129598000	Weak transcription	HepG2	liver
28	chr7:129594200-129598400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:129594200-129598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:129595000-129596200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:129595200-129596000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:129595200-129596000	Enhancers	Hela-S3	cervix
33	chr7:129595200-129596000	Enhancers	K562	blood
34	chr7:129595200-129596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:129595200-129596200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:129595200-129596200	Enhancers	HMEC	breast
37	chr7:129595200-129596200	Enhancers	NHEK	skin
38	chr7:129595400-129596000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:129595400-129596000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:129595400-129596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:129595400-129596000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:129595400-129596000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:129595400-129596000	Enhancers	Stomach Mucosa	stomach
44	chr7:129595400-129596000	Enhancers	A549	lung
45	chr7:129595400-129596000	Enhancers	NH-A	brain
46	chr7:129595400-129596200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:129595400-129596200	Enhancers	NHDF-Ad	bronchial
48	chr7:129595600-129596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:129595600-129596000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:129595600-129596000	Enhancers	Muscle Satellite Cultured Cells	--

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