Variant report

Variant	rs73470580
Chromosome Location	chr7:150658891-150658892
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	RAD21	chr7:150658658-150664101	SK-N-SH	brain:	n/a	chr7:150661143-150661156 chr7:150662524-150662536 chr7:150661907-150661920 chr7:150659206-150659216 chr7:150663286-150663296 chr7:150660201-150660215 chr7:150659204-150659217 chr7:150661874-150661884 chr7:150659213-150659226 chr7:150663247-150663259 chr7:150658812-150658821 chr7:150660200-150660214 chr7:150661972-150661986 chr7:150663043-150663062 chr7:150662061-150662071 chr7:150663281-150663300 chr7:150660157-150660171
2	SMC3	chr7:150658601-150660684	SK-N-SH	brain:	n/a	n/a
3	MAX	chr7:150658719-150659349	K562	blood:	n/a	n/a
4	POLR2A	chr7:150658841-150659180	K562	blood:	n/a	n/a
5	ZNF384	chr7:150658790-150659143	K562	blood:	n/a	n/a
6	NR2F2	chr7:150657980-150660535	K562	blood:	n/a	n/a
7	ZBTB7A	chr7:150658750-150659689	K562	blood:	n/a	n/a
8	CBX3	chr7:150658667-150660632	K562	blood:	n/a	n/a
9	CHD2	chr7:150658710-150658894	K562	blood:	n/a	n/a
10	POLR2A	chr7:150658755-150659340	K562	blood:	n/a	n/a
11	POLR2A	chr7:150655782-150660598	K562	blood:	n/a	n/a
12	POLR2A	chr7:150658694-150659556	K562	blood:	n/a	n/a
13	CCNT2	chr7:150658891-150659309	K562	blood:	n/a	chr7:150659052-150659061
14	MAX	chr7:150658649-150659456	K562	blood:	n/a	n/a
15	TBP	chr7:150658794-150659282	K562	blood:	n/a	n/a
16	TEAD4	chr7:150658548-150660691	K562	blood:	n/a	n/a
17	E2F6	chr7:150658697-150659313	K562	blood:	n/a	n/a
18	NR2F2	chr7:150658695-150660618	K562	blood:	n/a	n/a
19	HMGN3	chr7:150658722-150659320	K562	blood:	n/a	n/a
20	ZBTB7A	chr7:150658830-150659632	K562	blood:	n/a	n/a
21	TEAD4	chr7:150658758-150660395	K562	blood:	n/a	n/a
22	EP300	chr7:150656940-150664167	SK-N-SH	brain:	n/a	chr7:150657158-150657172 chr7:150657142-150657156 chr7:150661521-150661537 chr7:150661975-150661991 chr7:150661904-150661920 chr7:150660173-150660189 chr7:150657829-150657843
23	BHLHE40	chr7:150658874-150660507	K562	blood:	n/a	chr7:150659853-150659869 chr7:150659204-150659220

No.	Distal block	Cell Line	Cell type
1	chr7:150648894..150650627-chr7:150658105..150660939,2	MCF-7	breast:
2	chr7:150658109..150659014-chr7:150753965..150754542,2	K562	blood:
3	chr7:150658735..150660736-chr7:150752476..150754093,2	MCF-7	breast:
4	chr7:150100342..150102176-chr7:150657369..150659184,2	K562	blood:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164885	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs41308984	1.00[EUR][1000 genomes]
rs41309005	1.00[AMR][1000 genomes]
rs41314402	1.00[EUR][1000 genomes]
rs59290555	1.00[EUR][1000 genomes]
rs73470583	1.00[EUR][1000 genomes]
rs7780622	1.00[AMR][1000 genomes]
rs7784691	1.00[EUR][1000 genomes]
rs7789011	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
6	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
15	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
18	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
19	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
21	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150652200-150663800	Weak transcription	HSMMtube	muscle
2	chr7:150652600-150662200	Enhancers	Fetal Heart	heart
3	chr7:150652800-150660000	Weak transcription	Gastric	stomach
4	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:150653200-150659800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:150653400-150660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:150653400-150660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:150653600-150659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:150653600-150659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:150656600-150660200	Flanking Active TSS	K562	blood
11	chr7:150657000-150661800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:150657200-150669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150657600-150661600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:150657800-150663400	Enhancers	Fetal Lung	lung
15	chr7:150657800-150663400	Enhancers	Right Ventricle	heart
16	chr7:150658000-150659200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:150658000-150663000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150658000-150663200	Enhancers	Fetal Brain Male	brain
19	chr7:150658000-150663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:150658000-150663400	Enhancers	Left Ventricle	heart
21	chr7:150658000-150665800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:150658200-150659200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:150658200-150659600	Enhancers	Fetal Stomach	stomach
24	chr7:150658200-150660600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:150658200-150670800	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:150658400-150659000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr7:150658400-150660800	Weak transcription	Fetal Brain Female	brain
28	chr7:150658600-150660400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:150658600-150662400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:150658600-150666000	Enhancers	Colon Smooth Muscle	Colon
31	chr7:150658600-150666200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:150658800-150659400	Enhancers	Right Atrium	heart
33	chr7:150658800-150660400	Enhancers	Ovary	ovary
34	chr7:150658800-150660600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150658800-150660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:150658800-150660600	Enhancers	Fetal Intestine Large	intestine
37	chr7:150658800-150660800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr7:150658800-150661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:150658800-150663400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr7:150658800-150663400	Bivalent Enhancer	Placenta	Placenta
41	chr7:150658800-150670400	Enhancers	Duodenum Smooth Muscle	Duodenum

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