Variant report

Variant	rs180715797
Chromosome Location	chr7:99869847-99869848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr7:99869742-99870178	K562	blood:	n/a	chr7:99869908-99869917
2	TCF12	chr7:99869379-99870260	GM12878	blood:	n/a	chr7:99869820-99869830
3	POLR2A	chr7:99869643-99870094	HUVEC	blood vessel:	n/a	n/a
4	TAF1	chr7:99869725-99870107	SK-N-SH	brain:	n/a	n/a
5	HDAC2	chr7:99869641-99870105	HepG2	liver:	n/a	chr7:99869878-99869887 chr7:99870021-99870040
6	POLR2A	chr7:99869637-99870179	GM18951	blood:	n/a	n/a
7	POLR2A	chr7:99869577-99870152	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr7:99869661-99870096	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr7:99869747-99870141	K562	blood:	n/a	n/a
10	CTCF	chr7:99869723-99870121	A549	lung:	n/a	n/a
11	PBX3	chr7:99869771-99869914	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:99869209-99870354	GM12878	blood:	n/a	n/a
13	SP1	chr7:99869644-99870069	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:99869730-99870145	GM19099	blood:	n/a	n/a
15	POLR2A	chr7:99869476-99870226	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr7:99869642-99870153	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr7:99869683-99870084	SK-N-SH	brain:	n/a	n/a
18	FOXP2	chr7:99869709-99870109	PFSK-1	brain:	n/a	n/a
19	ETS1	chr7:99869710-99870083	A549	lung:	n/a	n/a
20	TAF1	chr7:99869790-99870098	SK-N-SH	brain:	n/a	n/a
21	GABPA	chr7:99869301-99870127	K562	blood:	n/a	chr7:99869876-99869890 chr7:99869876-99869887 chr7:99869447-99869456 chr7:99869873-99869887 chr7:99869878-99869887 chr7:99869876-99869885
22	CTCFL	chr7:99869705-99870058	K562	blood:	n/a	n/a
23	MXI1	chr7:99869782-99869868	K562	blood:	n/a	n/a
24	UBTF	chr7:99869418-99870119	K562	blood:	n/a	n/a
25	MAFK	chr7:99869799-99869916	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr7:99869732-99870099	HepG2	liver:	n/a	n/a
27	RAD21	chr7:99869754-99870171	HepG2	liver:	n/a	chr7:99869943-99869957
28	CTCF	chr7:99869741-99870087	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:99869177-99870542	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBP	chr7:99869789-99869937	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr7:99869217-99870250	K562	blood:	n/a	chr7:99869431-99869444
32	POLR2A	chr7:99869711-99870063	MCF-7	breast:	n/a	n/a
33	ZNF143	chr7:99869699-99870149	GM12878	blood:	n/a	chr7:99869908-99869917 chr7:99869899-99869917
34	POLR2A	chr7:99869689-99870089	H1-neurons	neurons:	n/a	n/a
35	PAX5	chr7:99869653-99870100	GM12892	blood:	n/a	n/a
36	MYC	chr7:99869716-99870041	K562	blood:	n/a	n/a
37	PBX3	chr7:99869721-99870049	A549	lung:	n/a	n/a
38	POLR2A	chr7:99869329-99870338	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:99869642-99870193	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr7:99869701-99870150	ProgFib	skin:	n/a	n/a
41	SIX5	chr7:99869715-99870570	A549	lung:	n/a	chr7:99869908-99869917
42	TAF1	chr7:99869193-99870445	H1-hESC	embryonic stem cell:	n/a	n/a
43	PAX5	chr7:99869664-99870230	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:99869439-99870217	A549	lung:	n/a	n/a
45	PAX5	chr7:99869315-99870391	GM12878	blood:	n/a	n/a
46	JUND	chr7:99869705-99870168	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:99869218-99870240	GM12878	blood:	n/a	n/a
48	MAX	chr7:99869691-99870040	K562	blood:	n/a	n/a
49	POLR2A	chr7:99869576-99870079	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr7:99869255-99870406	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99869835-99869885	HEEpiC	esophagus:	n/a
2	chr7:99869835-99869885	T-47D	breast:	n/a
3	chr7:99869835-99869885	NHBE	bronchial:	n/a
4	chr7:99869835-99869885	MCF-7	breast:	n/a
5	chr7:99869835-99869885	ECC-1	luminal epithelium:	n/a
6	chr7:99869835-99869885	NHDF-neo	bronchial:	n/a
7	chr7:99869835-99869885	HNPCEpiC	eye:	n/a
8	chr7:99869835-99869885	MCF10A-Er-Src	breast:	n/a
9	chr7:99869835-99869885	HCM	heart:	n/a
10	chr7:99869835-99869885	BJ	skin:	n/a
11	chr7:99869835-99869885	PrEC	prostate:	n/a
12	chr7:99869835-99869885	GM19239	blood:	n/a
13	chr7:99869835-99869885	AG04450	lung:	fetal
14	chr7:99869835-99869885	HRE	kidney:	n/a
15	chr7:99869835-99869885	LNCaP	prostate:	n/a
16	chr7:99869835-99869885	GM12891	blood:	n/a
17	chr7:99869835-99869885	AG04449	skin:	fetal
18	chr7:99869835-99869885	AG09319	gingival:	n/a
19	chr7:99869835-99869885	K562	blood:	n/a
20	chr7:99869835-99869885	GM12892	blood:	n/a
21	chr7:99869835-99869885	CMK	blood:	n/a
22	chr7:99869835-99869885	A549	lung:	n/a
23	chr7:99869835-99869885	HRPEpiC	eye:	n/a
24	chr7:99869835-99869885	U87	brain:	n/a
25	chr7:99869835-99869885	Hela-S3	cervix:	n/a
26	chr7:99869835-99869885	HL-60	blood:	n/a
27	chr7:99869835-99869885	ProgFib	skin:	n/a
28	chr7:99869835-99869885	HepG2	liver:	n/a
29	chr7:99869835-99869885	SKMC	muscle:	n/a
30	chr7:99869835-99869885	SK-N-SH	brain:	n/a
31	chr7:99869835-99869885	SAEC	small airway:	n/a
32	chr7:99869835-99869885	HAEpiC	amniotic membrane:	n/a
33	chr7:99869835-99869885	BE2_C	brain:	n/a
34	chr7:99869835-99869885	PFSK-1	brain:	n/a
35	chr7:99869835-99869885	Jurkat	blood:	n/a
36	chr7:99869835-99869885	AoSMC	blood vessel:	n/a
37	chr7:99869835-99869885	HCT-116	colon:	n/a
38	chr7:99869835-99869885	HEK293	kidney:	embryo
39	chr7:99869835-99869885	HCF	heart:	n/a
40	chr7:99869835-99869885	Caco-2	colon:	n/a
41	chr7:99869835-99869885	NB4	blood:	n/a
42	chr7:99869835-99869885	RPTEC	kidney:	n/a
43	chr7:99869835-99869885	NT2-D1	testis:	n/a
44	chr7:99869835-99869885	AG10803	skin:	n/a
45	chr7:99869835-99869885	IMR90	lung:	fetal
46	chr7:99869835-99869885	Hepatocyte	liver:	n/a
47	chr7:99869835-99869885	HUVEC	blood vessel:	n/a
48	chr7:99869835-99869885	AG09309	skin:	n/a
49	chr7:99869835-99869885	NH-A	brain:	n/a
50	chr7:99869835-99869885	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99746174..99748056-chr7:99869608..99872452,2	K562	blood:
2	chr7:99678858..99680502-chr7:99868393..99870017,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239521	TF binding region
ENSG00000239521	CpG island
ENSG00000166526	Chromatin interaction
ENSG00000188186	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3322577	chr7:99868041-99870889	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3445290	chr7:99868266-99870664	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3325915	chr7:99868641-99871189	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr7:99866800-99870600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:99867400-99870000	Active TSS	Brain Germinal Matrix	brain
3	chr7:99867400-99870200	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:99867400-99870200	Active TSS	HepG2	liver
5	chr7:99867600-99870000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr7:99867600-99870200	Active TSS	Brain Cingulate Gyrus	brain
7	chr7:99867600-99870200	Active TSS	Brain Hippocampus Middle	brain
8	chr7:99867600-99870200	Active TSS	Brain Substantia Nigra	brain
9	chr7:99867600-99870400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:99867600-99870400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:99867600-99870400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:99867600-99870400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:99867600-99870400	Active TSS	Fetal Brain Female	brain
14	chr7:99867600-99870600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:99867600-99870600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:99867800-99870000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:99867800-99870400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:99867800-99870400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:99867800-99870400	Active TSS	Brain Anterior Caudate	brain
20	chr7:99867800-99870400	Active TSS	A549	lung
21	chr7:99867800-99870600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:99867800-99870800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:99868000-99870000	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr7:99868000-99870000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:99868000-99870200	Active TSS	HSMMtube	muscle
26	chr7:99868000-99870400	Active TSS	Brain Angular Gyrus	brain
27	chr7:99868000-99870400	Active TSS	Psoas Muscle	Psoas
28	chr7:99868200-99870000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:99868200-99870000	Active TSS	Ovary	ovary
30	chr7:99868200-99870000	Active TSS	Pancreas	Pancrea
31	chr7:99868200-99870200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:99868200-99870200	Active TSS	Fetal Kidney	kidney
33	chr7:99868200-99870200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:99868200-99870400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:99868200-99870400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:99868200-99870400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:99868200-99870400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:99868200-99870400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:99868200-99870400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:99868200-99870400	Active TSS	NHDF-Ad	bronchial
41	chr7:99868200-99870400	Active TSS	NHLF	lung
42	chr7:99868400-99870000	Active TSS	Fetal Muscle Trunk	muscle
43	chr7:99868400-99870200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:99868400-99870200	Active TSS	Esophagus	oesophagus
45	chr7:99868400-99870400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:99868400-99870400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:99868400-99870600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:99868400-99870600	Active TSS	Colon Smooth Muscle	Colon
49	chr7:99868600-99870000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr7:99868600-99870000	Active TSS	Left Ventricle	heart

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