Variant report

Variant	rs72617352
Chromosome Location	chr7:150783103-150783104
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	STAT5A	chr7:150782952-150783337	GM12878	blood:	n/a	n/a
2	MAX	chr7:150782977-150783705	HepG2	liver:	n/a	chr7:150783586-150783596
3	PML	chr7:150782682-150783411	K562	blood:	n/a	n/a
4	MAFK	chr7:150783064-150783294	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:150782998-150783340	H1-hESC	embryonic stem cell:	n/a	n/a
6	HDAC2	chr7:150782798-150783587	MCF-7	breast:	n/a	n/a
7	MXI1	chr7:150782041-150783707	K562	blood:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
8	HEY1	chr7:150783085-150783377	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:150782163-150783841	HepG2	liver:	n/a	n/a
10	TBL1XR1	chr7:150782398-150783337	K562	blood:	n/a	n/a
11	POLR2A	chr7:150782787-150783783	NB4	blood:	n/a	n/a
12	GTF2F1	chr7:150783103-150783149	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF3	chr7:150783035-150783443	GM12878	blood:	n/a	chr7:150783260-150783274
14	PML	chr7:150782796-150783457	GM12878	blood:	n/a	n/a
15	ELF1	chr7:150783041-150783399	A549	lung:	n/a	n/a
16	RCOR1	chr7:150782488-150783698	K562	blood:	n/a	n/a
17	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
18	MYBL2	chr7:150782909-150783456	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:150782992-150783419	GM12892	blood:	n/a	n/a
20	EGR1	chr7:150782862-150783826	HCT-116	colon:	n/a	chr7:150783634-150783643 chr7:150783678-150783688 chr7:150783496-150783506 chr7:150783496-150783505 chr7:150783672-150783682 chr7:150783493-150783506 chr7:150783493-150783506 chr7:150783509-150783518
21	ZBTB7A	chr7:150782729-150783636	ECC-1	luminal epithelium:	n/a	n/a
22	GTF2F1	chr7:150782683-150783332	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr7:150783038-150783418	K562	blood:	n/a	n/a
24	POLR2A	chr7:150783046-150783770	GM12892	blood:	n/a	n/a
25	POLR2A	chr7:150782457-150783777	K562	blood:	n/a	n/a
26	E2F6	chr7:150782902-150783451	K562	blood:	n/a	chr7:150783243-150783255
27	PML	chr7:150782613-150783420	K562	blood:	n/a	n/a
28	TFAP2A	chr7:150782674-150783438	Hela-S3	cervix:	n/a	chr7:150783286-150783298 chr7:150783157-150783167 chr7:150783286-150783298 chr7:150783286-150783298 chr7:150783286-150783298
29	POLR2A	chr7:150782942-150783870	MCF-7	breast:	n/a	n/a
30	POLR2A	chr7:150783059-150783371	HepG2	liver:	n/a	n/a
31	MAZ	chr7:150782586-150783733	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
32	POLR2A	chr7:150782600-150783409	U87	brain:	n/a	n/a
33	SIN3AK20	chr7:150782951-150783442	PANC-1	pancreas:	n/a	n/a
34	PAX5	chr7:150783072-150783420	GM12892	blood:	n/a	n/a
35	TBP	chr7:150782672-150783370	Hela-S3	cervix:	n/a	n/a
36	REST	chr7:150783054-150783258	K562	blood:	n/a	n/a
37	GATA3	chr7:150782766-150783702	MCF-7	breast:	n/a	n/a
38	MAX	chr7:150782658-150783768	Hela-S3	cervix:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
39	IRF1	chr7:150782495-150783562	K562	blood:	n/a	chr7:150782512-150782521 chr7:150782606-150782615 chr7:150783230-150783241
40	POLR2A	chr7:150782975-150783377	HUVEC	blood vessel:	n/a	n/a
41	TCF7L2	chr7:150783080-150783276	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:150782923-150783662	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr7:150782794-150783666	K562	blood:	n/a	n/a
44	POLR2A	chr7:150782904-150783372	GM12892	blood:	n/a	n/a
45	POLR2A	chr7:150782977-150783714	Hela-S3	cervix:	n/a	n/a
46	EP300	chr7:150783042-150783426	SK-N-SH_RA	brain:	n/a	n/a
47	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
48	GTF2B	chr7:150782834-150783383	K562	blood:	n/a	n/a
49	POLR2A	chr7:150782930-150783834	A549	lung:	n/a	n/a
50	TAF1	chr7:150783097-150783418	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
2	chr17:2239559..2240266-chr7:150782649..150783588,2	HCT-116	colon:
3	chr10:112631125..112631745-chr7:150782860..150783599,2	NB4	blood:

Variant related genes	Relation type
TMUB1	TF binding region
AGAP3	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000167721	Chromatin interaction
ENSG00000150593	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10279150	0.94[ASN][1000 genomes]
rs10279252	0.98[ASN][1000 genomes]
rs11542749	0.85[EUR][1000 genomes]
rs11769922	0.90[ASN][1000 genomes]
rs2229553	0.89[EUR][1000 genomes]
rs2288648	0.93[ASN][1000 genomes]
rs2303935	0.81[ASN][1000 genomes]
rs2303938	0.87[ASN][1000 genomes]
rs2303940	0.87[ASN][1000 genomes]
rs2303941	0.87[ASN][1000 genomes]
rs34159116	0.85[ASN][1000 genomes]
rs34762230	0.85[EUR][1000 genomes]
rs35662595	0.85[EUR][1000 genomes]
rs4440544	0.93[ASN][1000 genomes]
rs4517031	0.94[ASN][1000 genomes]
rs4571654	0.94[ASN][1000 genomes]
rs4725390	0.90[ASN][1000 genomes]
rs4725991	0.90[ASN][1000 genomes]
rs4725994	0.80[ASN][1000 genomes]
rs56353209	0.89[EUR][1000 genomes]
rs72617354	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	esv3343113	chr7:150782644-150785192	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
25	esv3418337	chr7:150782769-150784967	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150782200-150783200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150782200-150783200	Enhancers	Stomach Mucosa	stomach
3	chr7:150782200-150783200	Flanking Active TSS	K562	blood
4	chr7:150782200-150783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:150782400-150783200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150782400-150783200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:150782400-150783200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150782400-150783200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr7:150782400-150783200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:150782400-150783200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:150782400-150783200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:150782400-150783200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:150782400-150783200	Flanking Active TSS	Fetal Brain Male	brain
14	chr7:150782400-150783200	Active TSS	Fetal Kidney	kidney
15	chr7:150782400-150783200	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr7:150782400-150783200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:150782400-150783200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:150782400-150783200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr7:150782400-150783400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:150782600-150783200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:150782600-150783200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:150782600-150783200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:150782600-150783200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:150782600-150783200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:150782600-150783200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:150782600-150783200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:150782600-150783200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:150782600-150783200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr7:150782600-150783200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr7:150782600-150783200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr7:150782600-150783200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr7:150782600-150783200	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr7:150782600-150783200	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr7:150782600-150783200	Flanking Active TSS	Placenta	Placenta
35	chr7:150782600-150783200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr7:150782600-150783200	Flanking Active TSS	Right Ventricle	heart
37	chr7:150782600-150783200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr7:150782600-150783200	Flanking Active TSS	A549	lung
39	chr7:150782600-150783200	Flanking Active TSS	HSMM	muscle
40	chr7:150782600-150783200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr7:150782600-150783200	Flanking Active TSS	NHLF	lung
42	chr7:150782600-150783400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:150782600-150783400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150782600-150783400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:150782600-150783400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:150782600-150783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:150782600-150783400	Flanking Bivalent TSS/Enh	Dnd41	blood
48	chr7:150782600-150783400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:150782600-150786600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:150782800-150783200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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