Variant report

Variant	rs73397438
Chromosome Location	chr7:99007517-99007518
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	WRNIP1	chr7:99007513-99007703	GM12878	blood:	n/a	n/a
2	JUND	chr7:99003803-99007899	SK-N-SH	brain:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99005830-99005840 chr7:99007391-99007400
3	POLR2A	chr7:99004668-99007732	IMR90	lung:	n/a	n/a
4	JUN	chr7:99004899-99007989	K562	blood:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99006506-99006519 chr7:99005830-99005840 chr7:99007391-99007400
5	TEAD4	chr7:99005235-99007657	K562	blood:	n/a	n/a
6	REST	chr7:99005284-99007578	H1-neurons	neurons:	n/a	chr7:99006255-99006268
7	POLR2A	chr7:99007337-99008093	GM12878	blood:	n/a	n/a
8	MXI1	chr7:99003886-99008004	SK-N-SH	brain:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
9	POLR2A	chr7:99003980-99007925	GM12878	blood:	n/a	n/a
10	EGR1	chr7:99006863-99007550	K562	blood:	n/a	chr7:99007390-99007400 chr7:99007393-99007406

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
3	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
4	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
5	chr7:99005603..99007986-chr7:99155532..99158163,2	K562	blood:
6	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
7	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
8	chr7:99005495..99008019-chr7:99062000..99063927,3	MCF-7	breast:
9	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
10	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
11	chr7:99005061..99007834-chr7:99068897..99070903,2	MCF-7	breast:
12	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000197343	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000160917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17131918	1.00[AMR][1000 genomes]
rs45522534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59544825	1.00[AMR][1000 genomes]
rs73397420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405277	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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99004200-99008000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:99004600-99007600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:99004600-99007800	Active TSS	Psoas Muscle	Psoas
4	chr7:99004600-99008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:99004800-99007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:99004800-99007600	Active TSS	Aorta	Aorta
7	chr7:99005000-99007800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:99005000-99007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:99005000-99007800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:99005000-99007800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:99005000-99008000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:99005200-99007600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:99005200-99007600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:99005200-99007600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:99005200-99007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:99005200-99007600	Active TSS	Fetal Intestine Large	intestine
17	chr7:99005200-99007600	Active TSS	Fetal Kidney	kidney
18	chr7:99005200-99007600	Active TSS	Ovary	ovary
19	chr7:99005200-99007600	Active TSS	A549	lung
20	chr7:99005200-99007600	Active TSS	HSMM	muscle
21	chr7:99005200-99007600	Active TSS	K562	blood
22	chr7:99005200-99007600	Active TSS	NHDF-Ad	bronchial
23	chr7:99005200-99007600	Active TSS	NHLF	lung
24	chr7:99005200-99007800	Active TSS	Lung	lung
25	chr7:99005200-99008000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:99005200-99008000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:99005400-99007600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:99005400-99007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:99005400-99007600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:99005400-99007600	Active TSS	Esophagus	oesophagus
31	chr7:99005400-99007600	Active TSS	Fetal Intestine Small	intestine
32	chr7:99005400-99007600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:99005400-99007600	Bivalent/Poised TSS	HepG2	liver
34	chr7:99005400-99007600	Active TSS	HMEC	breast
35	chr7:99005400-99007600	Active TSS	HSMMtube	muscle
36	chr7:99005400-99007800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:99005400-99007800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:99005400-99007800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:99005400-99007800	Active TSS	GM12878-XiMat	blood
40	chr7:99005600-99007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:99005600-99007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:99005600-99007600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr7:99005600-99007600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:99005600-99007600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:99005600-99007600	Active TSS	Brain Germinal Matrix	brain
46	chr7:99005600-99007600	Active TSS	Brain Hippocampus Middle	brain
47	chr7:99005600-99007600	Active TSS	Fetal Brain Female	brain
48	chr7:99005600-99007600	Active TSS	Gastric	stomach
49	chr7:99005800-99007600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:99005800-99007600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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