Variant report

Variant	rs73472561
Chromosome Location	chr7:150709980-150709981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:150709952-150710224	K562	blood:	n/a	n/a
2	MXI1	chr7:150709962-150710202	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr7:150709955-150710262	K562	blood:	n/a	n/a
4	TEAD4	chr7:150709802-150710243	HepG2	liver:	n/a	n/a
5	CTCF	chr7:150709980-150710130	HEEpiC	esophagus:	n/a	n/a
6	ELK1	chr7:150709964-150710149	K562	blood:	n/a	n/a
7	RAD21	chr7:150709839-150710297	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr7:150709910-150710215	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:150709969-150710224	GM19238	blood:	n/a	n/a
10	SMC3	chr7:150709961-150710190	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr7:150709972-150710216	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:150709603-150710185	K562	blood:	n/a	n/a
13	CTCF	chr7:150709890-150710281	K562	blood:	n/a	n/a
14	SMARCC1	chr7:150709342-150710360	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:150709980-150710130	A549	lung:	n/a	n/a
16	SIN3A	chr7:150709953-150710232	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:150709775-150710280	K562	blood:	n/a	n/a
18	CTCF	chr7:150709853-150710242	A549	lung:	n/a	n/a
19	JUND	chr7:150709940-150710224	K562	blood:	n/a	n/a
20	POLR2A	chr7:150709350-150710316	HepG2	liver:	n/a	n/a
21	TEAD4	chr7:150709840-150710305	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:150709980-150710130	HFF-Myc	foreskin:	n/a	n/a
23	POLR2A	chr7:150709180-150710268	K562	blood:	n/a	n/a
24	CTCF	chr7:150709888-150710301	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:150709948-150710238	SK-N-SH_RA	brain:	n/a	n/a
26	RAD21	chr7:150709898-150710306	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr7:150709867-150710385	MCF-7	breast:	n/a	n/a
28	RAD21	chr7:150709921-150710295	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:150709920-150710070	WI-38	lung:	n/a	n/a
30	TEAD4	chr7:150709819-150710310	K562	blood:	n/a	n/a
31	CTCF	chr7:150709953-150710161	A549	lung:	n/a	n/a
32	ZNF143	chr7:150709974-150710223	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F4	chr7:150709901-150710132	MCF10A-Er-Src	breast:	n/a	n/a
34	NR2F2	chr7:150708709-150710347	K562	blood:	n/a	n/a
35	CTCF	chr7:150709905-150710164	T-47D	breast:	n/a	n/a
36	MYC	chr7:150709960-150710205	K562	blood:	n/a	n/a
37	CTCF	chr7:150709980-150710130	HepG2	liver:	n/a	n/a
38	RAD21	chr7:150709852-150710382	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:150709980-150710130	GM12872	blood:	n/a	n/a
40	MAZ	chr7:150709932-150710248	K562	blood:	n/a	n/a
41	CTCF	chr7:150709980-150710130	GM12871	blood:	n/a	n/a
42	CTCF	chr7:150709926-150710274	IMR90	lung:	n/a	n/a
43	TEAD4	chr7:150709946-150710237	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr7:150709932-150710210	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr7:150709960-150710198	HepG2	liver:	n/a	n/a
46	CTCF	chr7:150709837-150710331	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:150709980-150710130	GM12874	blood:	n/a	n/a
48	CTCF	chr7:150709961-150710222	A549	lung:	n/a	n/a
49	CBX3	chr7:150709840-150710304	K562	blood:	n/a	n/a
50	CTCF	chr7:150709980-150710130	GM12868	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150709937..150710499-chr7:150820826..150821700,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11976118	1.00[ASN][1000 genomes]
rs11977913	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11979696	1.00[AMR][1000 genomes]
rs11983213	1.00[AMR][1000 genomes]
rs11983731	1.00[AMR][1000 genomes]
rs2069446	1.00[AMR][1000 genomes]
rs34158168	1.00[AMR][1000 genomes]
rs3918198	1.00[AMR][1000 genomes]
rs3918211	1.00[ASN][1000 genomes]
rs61652080	1.00[AMR][1000 genomes]
rs73474675	1.00[ASN][1000 genomes]
rs7776461	1.00[AMR][1000 genomes]
rs7776772	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
7	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
8	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:150706200-150710000	Weak transcription	Brain Substantia Nigra	brain
11	chr7:150706200-150710200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
14	chr7:150706400-150710200	Weak transcription	Right Ventricle	heart
15	chr7:150706800-150710600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:150707600-150711000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr7:150707800-150710800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:150707800-150714200	Weak transcription	Dnd41	blood
19	chr7:150708000-150710000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:150708200-150710000	Transcr. at gene 5' and 3'	K562	blood
21	chr7:150708200-150710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150708200-150710200	Weak transcription	Gastric	stomach
23	chr7:150708200-150710400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:150708200-150710400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:150708200-150711000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:150708200-150711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:150708400-150710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:150708400-150710000	Enhancers	Fetal Intestine Large	intestine
29	chr7:150708400-150710200	Enhancers	Fetal Intestine Small	intestine
30	chr7:150708400-150710800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:150708400-150711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150708400-150711000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr7:150708800-150710400	Flanking Active TSS	HepG2	liver
34	chr7:150708800-150710800	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:150709000-150710000	Enhancers	Brain Anterior Caudate	brain
36	chr7:150709000-150710000	Enhancers	HUVEC	blood vessel
37	chr7:150709000-150710200	Enhancers	A549	lung
38	chr7:150709000-150710800	Genic enhancers	Spleen	Spleen
39	chr7:150709400-150710000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr7:150709400-150710200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:150709400-150710200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:150709400-150710200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:150709400-150710200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:150709400-150710200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:150709400-150710200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr7:150709400-150710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:150709400-150710400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr7:150709400-150710600	Enhancers	Stomach Mucosa	stomach
49	chr7:150709400-150710800	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr7:150709400-150710800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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