Variant report

Variant	rs72624928
Chromosome Location	chr7:128050706-128050707
allele	G/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	MAX	chr7:128049613-128050773	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr7:128050130-128050846	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr7:128049409-128050844	A549	lung:	n/a	n/a
4	MAX	chr7:128049457-128050713	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr7:128049164-128050981	IMR90	lung:	n/a	n/a
6	HA-E2F1	chr7:128049410-128051408	MCF-7	breast:	n/a	chr7:128049581-128049590
7	ZNF263	chr7:128049003-128050762	HEK293-T-REx	kidney:	n/a	n/a
8	MYC	chr7:128048126-128050706	NB4	blood:	n/a	n/a
9	MAX	chr7:128049492-128050879	MCF-7	breast:	n/a	n/a
10	RFX5	chr7:128049695-128050717	Hela-S3	cervix:	n/a	n/a
11	TFAP2C	chr7:128049611-128050919	Hela-S3	cervix:	n/a	n/a
12	SP1	chr7:128050000-128050788	A549	lung:	n/a	n/a
13	NR2F2	chr7:128048091-128050803	K562	blood:	n/a	n/a
14	TBP	chr7:128050235-128050731	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr7:128050464-128050781	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr7:128048724-128051079	IMR90	lung:	n/a	n/a
17	POLR2A	chr7:128049512-128050755	HCT-116	colon:	n/a	n/a
18	TEAD4	chr7:128048578-128050826	K562	blood:	n/a	n/a
19	MAX	chr7:128050123-128050871	ECC-1	luminal epithelium:	n/a	n/a
20	FOXA1	chr7:128050529-128050785	T-47D	breast:	n/a	n/a
21	PML	chr7:128048855-128050772	K562	blood:	n/a	n/a
22	TFAP2A	chr7:128049715-128050895	Hela-S3	cervix:	n/a	chr7:128050752-128050766 chr7:128050752-128050766 chr7:128050753-128050764 chr7:128050753-128050764 chr7:128050753-128050764 chr7:128050752-128050766 chr7:128050753-128050764
23	MYC	chr7:128049082-128050714	K562	blood:	n/a	n/a
24	MAX	chr7:128048359-128050715	K562	blood:	n/a	n/a
25	MXI1	chr7:128049727-128050732	Hela-S3	cervix:	n/a	n/a
26	MYC	chr7:128050338-128050807	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr7:128049618-128050707	H1-neurons	neurons:	n/a	n/a
28	KAP1	chr7:128050161-128050799	HEK293	kidney:	n/a	n/a
29	MAX	chr7:128049421-128050761	SK-N-SH	brain:	n/a	n/a
30	IRF3	chr7:128050699-128050821	GM12878	blood:	n/a	n/a
31	MYC	chr7:128049072-128050741	K562	blood:	n/a	n/a
32	CBX3	chr7:128048569-128050903	K562	blood:	n/a	n/a
33	POLR2A	chr7:128049663-128050731	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr7:128049146-128050767	HL-60	blood:	n/a	n/a
35	E2F6	chr7:128050060-128050814	A549	lung:	n/a	n/a
36	MAX	chr7:128049280-128050849	ECC-1	luminal epithelium:	n/a	n/a
37	MTA3	chr7:128050114-128050763	GM12878	blood:	n/a	n/a
38	TCF12	chr7:128050057-128050923	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr7:128049495-128050730	ECC-1	luminal epithelium:	n/a	n/a
40	IRF1	chr7:128049492-128050796	K562	blood:	n/a	n/a
41	MAX	chr7:128049302-128050931	A549	lung:	n/a	n/a
42	SP1	chr7:128049578-128050771	A549	lung:	n/a	chr7:128049712-128049724 chr7:128049714-128049723 chr7:128049712-128049724 chr7:128049713-128049723 chr7:128049713-128049722
43	MAZ	chr7:128048651-128050767	K562	blood:	n/a	n/a
44	RCOR1	chr7:128048596-128050784	K562	blood:	n/a	n/a
45	ZC3H11A	chr7:128050246-128050742	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128048546..128051424-chr8:143807465..143809769,2	MCF-7	breast:
2	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
3	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
4	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
5	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
6	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
7	chr7:128050564..128052309-chr7:128052445..128055482,3	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000253741	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000253806	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000130193	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10228542	0.85[EUR][1000 genomes]
rs10239919	0.82[EUR][1000 genomes]
rs10247945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10273872	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12111997	0.85[EUR][1000 genomes]
rs1560215	0.84[EUR][1000 genomes]
rs17152065	0.86[EUR][1000 genomes]
rs28391244	0.86[EUR][1000 genomes]
rs28429588	0.86[EUR][1000 genomes]
rs28580600	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4731452	0.83[EUR][1000 genomes]
rs6944392	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6978246	0.86[EUR][1000 genomes]
rs714511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72624954	1.00[ASN][1000 genomes]
rs7779818	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7779945	1.00[ASN][1000 genomes]
rs7781310	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7784120	0.86[EUR][1000 genomes]
rs7806193	0.84[EUR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128047800-128051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:128048400-128050800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:128049000-128051000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:128049200-128050800	Bivalent/Poised TSS	Thymus	Thymus
5	chr7:128049400-128050800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:128049400-128050800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128049400-128050800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:128049400-128050800	Active TSS	Aorta	Aorta
9	chr7:128049400-128050800	Active TSS	Esophagus	oesophagus
10	chr7:128049400-128050800	Active TSS	Ovary	ovary
11	chr7:128049400-128050800	Active TSS	Psoas Muscle	Psoas
12	chr7:128049400-128051000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:128049400-128051000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:128049600-128050800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr7:128049600-128050800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:128049600-128050800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:128049600-128050800	Active TSS	Brain Angular Gyrus	brain
18	chr7:128049600-128050800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr7:128049600-128050800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:128049600-128051000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:128049600-128051000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:128049600-128051000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:128049600-128051000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:128049600-128051000	Active TSS	Placenta Amnion	Placenta Amnion
25	chr7:128049600-128051000	Active TSS	Right Ventricle	heart
26	chr7:128049600-128051000	Active TSS	NHDF-Ad	bronchial
27	chr7:128049600-128051400	Active TSS	A549	lung
28	chr7:128049800-128050800	Active TSS	Colonic Mucosa	Colon
29	chr7:128049800-128050800	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:128049800-128051000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:128050000-128051400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:128050200-128050800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:128050200-128050800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr7:128050200-128050800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr7:128050200-128050800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:128050200-128050800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:128050200-128050800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:128050200-128050800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:128050200-128050800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr7:128050200-128050800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:128050200-128050800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:128050200-128050800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr7:128050200-128050800	Flanking Active TSS	Liver	Liver
44	chr7:128050200-128050800	Active TSS	Fetal Heart	heart
45	chr7:128050200-128050800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr7:128050200-128050800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr7:128050200-128050800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr7:128050200-128050800	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr7:128050200-128050800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr7:128050200-128050800	Flanking Active TSS	NHEK	skin

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