Variant report

Variant	rs73395948
Chromosome Location	chr7:99678916-99678917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99678608-99679730	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:99678449-99679676	H1-hESC	embryonic stem cell:	n/a	n/a
3	RELA	chr7:99678772-99679811	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:99678718-99679909	HL-60	blood:	n/a	n/a
5	POLR2A	chr7:99678693-99679981	K562	blood:	n/a	n/a
6	NFIC	chr7:99678856-99680038	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:99678454-99679773	H1-neurons	neurons:	n/a	n/a
8	GABPA	chr7:99678431-99679861	SK-N-SH	brain:	n/a	n/a
9	JUN	chr7:99678897-99680023	K562	blood:	n/a	chr7:99679467-99679477 chr7:99679466-99679478
10	JUND	chr7:99678844-99679959	MCF-7	breast:	n/a	chr7:99679466-99679477 chr7:99679467-99679477 chr7:99679466-99679478
11	CTCF	chr7:99678430-99680094	A549	lung:	n/a	chr7:99679557-99679575 chr7:99679559-99679572 chr7:99679552-99679573 chr7:99679558-99679574 chr7:99679559-99679572
12	SIN3AK20	chr7:99678580-99679775	K562	blood:	n/a	n/a
13	POLR2A	chr7:99678590-99679838	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr7:99678478-99679924	SK-N-SH	brain:	n/a	chr7:99679616-99679626
15	POLR2A	chr7:99678508-99680450	HUVEC	blood vessel:	n/a	n/a
16	RFX5	chr7:99678892-99678967	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:99677700-99679758	SK-N-SH	brain:	n/a	n/a
18	CREB1	chr7:99678479-99679818	HepG2	liver:	n/a	n/a
19	MAX	chr7:99678454-99679941	SK-N-SH	brain:	n/a	chr7:99679616-99679626
20	TAF1	chr7:99678686-99679591	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr7:99678890-99679783	K562	blood:	n/a	n/a
22	SIN3AK20	chr7:99678626-99679713	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:99678451-99679653	SK-N-SH	brain:	n/a	n/a
24	EGR1	chr7:99678818-99680030	HCT-116	colon:	n/a	chr7:99679539-99679552
25	POLR2A	chr7:99678671-99680647	K562	blood:	n/a	n/a
26	CTCF	chr7:99678780-99678930	SK-N-SH_RA	brain:	n/a	n/a
27	FOXA1	chr7:99678395-99679045	HepG2	liver:	n/a	chr7:99678632-99678647
28	MAFK	chr7:99678885-99678983	K562	blood:	n/a	n/a
29	MYC	chr7:99678738-99680704	K562	blood:	n/a	chr7:99679616-99679626
30	POLR2A	chr7:99678548-99680550	K562	blood:	n/a	n/a
31	SREBP2	chr7:99678395-99681082	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:99678439-99679765	IMR90	lung:	n/a	n/a
33	POLR2A	chr7:99678481-99679794	GM12878	blood:	n/a	n/a
34	ARID3A	chr7:99678436-99679671	HepG2	liver:	n/a	n/a
35	GABPA	chr7:99678415-99679822	A549	lung:	n/a	n/a
36	GABPA	chr7:99678491-99679783	A549	lung:	n/a	n/a
37	SREBP1	chr7:99678718-99680857	GM12878	blood:	n/a	chr7:99678727-99678736
38	EGR1	chr7:99678630-99679917	HCT-116	colon:	n/a	chr7:99678662-99678671 chr7:99679539-99679552
39	SIN3A	chr7:99678496-99680583	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:99678666-99679848	HL-60	blood:	n/a	n/a
41	GABPA	chr7:99678402-99679958	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:99678628-99680651	K562	blood:	n/a	n/a
43	BACH1	chr7:99678827-99679844	K562	blood:	n/a	n/a
44	POLR2A	chr7:99678480-99679745	GM12892	blood:	n/a	n/a
45	POLR2A	chr7:99678565-99678976	PANC-1	pancreas:	n/a	n/a
46	MTA3	chr7:99678827-99679922	GM12878	blood:	n/a	n/a
47	CBX3	chr7:99678541-99680048	K562	blood:	n/a	n/a
48	CTCF	chr7:99678840-99678990	GM06990	blood:	n/a	n/a
49	PML	chr7:99678762-99680512	GM12878	blood:	n/a	n/a
50	MXI1	chr7:99678495-99679782	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99678880-99678930	HUVEC	blood vessel:	n/a
2	chr7:99678880-99678930	LNCaP	prostate:	n/a
3	chr7:99678880-99678930	HL-60	blood:	n/a
4	chr7:99678880-99678930	A549	lung:	n/a
5	chr7:99678880-99678930	BJ	skin:	n/a
6	chr7:99678880-99678930	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:99678880-99678930	GM12892	blood:	n/a
8	chr7:99678880-99678930	GM06990	blood:	n/a
9	chr7:99678880-99678930	HRPEpiC	eye:	n/a
10	chr7:99678880-99678930	ovcar-3	ovarian:	n/a
11	chr7:99678880-99678930	HRCEpiC	kidney:	n/a
12	chr7:99678880-99678930	GM19239	blood:	n/a
13	chr7:99678880-99678930	Jurkat	blood:	n/a
14	chr7:99678880-99678930	AoSMC	blood vessel:	n/a
15	chr7:99678880-99678930	HCT-116	colon:	n/a
16	chr7:99678880-99678930	NB4	blood:	n/a
17	chr7:99678880-99678930	HRE	kidney:	n/a
18	chr7:99678880-99678930	NHDF-neo	bronchial:	n/a
19	chr7:99678880-99678930	PANC-1	pancreas:	n/a
20	chr7:99678880-99678930	ECC-1	luminal epithelium:	n/a
21	chr7:99678880-99678930	SK-N-MC	brain:	n/a
22	chr7:99678880-99678930	AG04450	lung:	fetal
23	chr7:99678880-99678930	Hepatocyte	liver:	n/a
24	chr7:99678880-99678930	T-47D	breast:	n/a
25	chr7:99678880-99678930	HMEC	breast:	n/a
26	chr7:99678880-99678930	HCPEpiC	choroid plexus:	n/a
27	chr7:99678880-99678930	HEEpiC	esophagus:	n/a
28	chr7:99678880-99678930	PFSK-1	brain:	n/a
29	chr7:99678880-99678930	Caco-2	colon:	n/a
30	chr7:99678880-99678930	GM12891	blood:	n/a
31	chr7:99678880-99678930	U87	brain:	n/a
32	chr7:99678880-99678930	HCF	heart:	n/a
33	chr7:99678880-99678930	HNPCEpiC	eye:	n/a
34	chr7:99678880-99678930	SKMC	muscle:	n/a
35	chr7:99678880-99678930	AG09319	gingival:	n/a
36	chr7:99678880-99678930	BE2_C	brain:	n/a
37	chr7:99678880-99678930	AG09309	skin:	n/a
38	chr7:99678880-99678930	ProgFib	skin:	n/a
39	chr7:99678880-99678930	CMK	blood:	n/a
40	chr7:99678880-99678930	IMR90	lung:	fetal
41	chr7:99678880-99678930	H1-hESC	embryonic stem cell:	embryo
42	chr7:99678880-99678930	SK-N-SH	brain:	n/a
43	chr7:99678880-99678930	NH-A	brain:	n/a
44	chr7:99678880-99678930	HEK293	kidney:	embryo
45	chr7:99678880-99678930	AG10803	skin:	n/a
46	chr7:99678880-99678930	Hela-S3	cervix:	n/a
47	chr7:99678880-99678930	HCM	heart:	n/a
48	chr7:99678880-99678930	HAEpiC	amniotic membrane:	n/a
49	chr7:99678880-99678930	MCF-7	breast:	n/a
50	chr7:99678880-99678930	MCF10A-Er-Src	breast:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99611430..99615857-chr7:99675156..99681193,15	K562	blood:
2	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
3	chr7:99576524..99578899-chr7:99677600..99679193,2	K562	blood:
4	chr7:99677781..99680960-chr7:99753334..99755747,3	K562	blood:
5	chr7:99643901..99648827-chr7:99678011..99681180,5	MCF-7	breast:
6	chr17:56707923..56709541-chr7:99678823..99680678,2	MCF-7	breast:
7	chr7:99515767..99517509-chr7:99677745..99680762,3	K562	blood:
8	chr7:99034954..99037975-chr7:99677842..99679932,3	K562	blood:
9	chr7:99612275..99615910-chr7:99677885..99681193,8	K562	blood:
10	chr7:99668310..99676246-chr7:99677185..99681836,16	MCF-7	breast:
11	chr7:99678771..99681230-chrX:153686128..153688356,2	MCF-7	breast:
12	chr7:99678700..99680050-chr7:99698497..99699048,3	MCF-7	breast:
13	chr7:99095910..99098991-chr7:99677831..99680952,3	K562	blood:
14	chr7:99677604..99679757-chr7:100032184..100034035,2	K562	blood:
15	chr7:99678858..99680502-chr7:99868393..99870017,2	K562	blood:
16	chr7:99676617..99678184-chr7:99678757..99681254,2	MCF-7	breast:
17	chr7:99515562..99518077-chr7:99677870..99680297,2	MCF-7	breast:
18	chr7:99645911..99648901-chr7:99677073..99680526,5	MCF-7	breast:
19	chr7:99612316..99614498-chr7:99678113..99681049,2	MCF-7	breast:
20	chr7:99034954..99037866-chr7:99677567..99679393,3	K562	blood:
21	chr7:99678150..99680840-chr7:99745802..99747768,2	K562	blood:
22	chr7:99646221..99648949-chr7:99678840..99680973,5	K562	blood:
23	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF3	TF binding region
ZNF3	CpG island
ENSG00000078487	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000160844	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000239521	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000214313	Chromatin interaction
ENSG00000130827	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73395910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 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	chr7:99677600-99680400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:99677800-99679000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:99677800-99679000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:99677800-99680600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:99678000-99679000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:99678000-99679000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:99678000-99679400	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr7:99678000-99679400	Active TSS	HSMMtube	muscle
9	chr7:99678000-99679400	Active TSS	NHLF	lung
10	chr7:99678000-99679600	Active TSS	HSMM	muscle
11	chr7:99678000-99679600	Active TSS	NH-A	brain
12	chr7:99678000-99679800	Active TSS	A549	lung
13	chr7:99678000-99680200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:99678000-99680400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:99678000-99680400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:99678000-99680400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:99678000-99680400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:99678000-99680400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:99678000-99680400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:99678000-99680400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:99678000-99680400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:99678000-99680400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:99678000-99680400	Active TSS	Fetal Kidney	kidney
24	chr7:99678000-99681000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:99678200-99679000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:99678200-99679000	Flanking Active TSS	Liver	Liver
27	chr7:99678200-99679000	Active TSS	Fetal Brain Female	brain
28	chr7:99678200-99679400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:99678200-99679400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:99678200-99679400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:99678200-99679400	Active TSS	NHDF-Ad	bronchial
32	chr7:99678200-99679600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:99678200-99679600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:99678200-99679600	Active TSS	NHEK	skin
35	chr7:99678200-99679800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:99678200-99679800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:99678200-99679800	Active TSS	Fetal Intestine Large	intestine
38	chr7:99678200-99679800	Active TSS	Ovary	ovary
39	chr7:99678200-99679800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:99678200-99679800	Active TSS	Hela-S3	cervix
41	chr7:99678200-99679800	Active TSS	HUVEC	blood vessel
42	chr7:99678200-99680000	Active TSS	Colon Smooth Muscle	Colon
43	chr7:99678200-99680200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:99678200-99680200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:99678200-99680200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:99678200-99680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:99678200-99680200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:99678200-99680200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:99678200-99680200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:99678200-99680400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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