Variant report

Variant	esv2246828
Chromosome Location	chr9:140704112-140704710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr9:140704344-140704482	MCF-7	breast:	n/a	n/a
2	MYC	chr9:140704487-140704710	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:140704485-140704595	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:140704131-140704914	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:140704196-140704499	GM12892	blood:	n/a	n/a
6	POLR2A	chr9:140704370-140704854	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:140704289-140704296	MCF-7	breast:	n/a	n/a
8	POLR2A	chr9:140704078-140704726	GM12891	blood:	n/a	n/a
9	POLR2A	chr9:140704104-140704716	GM12891	blood:	n/a	n/a
10	POLR2A	chr9:140704228-140704830	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:140704297-140704324	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:140704199-140704802	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:140704596-140704619	MCF-7	breast:	n/a	n/a
14	POLR2A	chr9:140704217-140704735	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:140704630-140704725	A549	lung:	n/a	n/a
16	POLR2A	chr9:140704106-140704783	GM12892	blood:	n/a	n/a
17	POLR2A	chr9:140704624-140704636	MCF-7	breast:	n/a	n/a
18	POLR2A	chr9:140704265-140704476	A549	lung:	n/a	n/a
19	POLR2A	chr9:140704641-140704847	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:140704411-140704732	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:140704191-140704891	GM12892	blood:	n/a	n/a
22	POLR2A	chr9:140704336-140704462	MCF-7	breast:	n/a	n/a
23	POLR2A	chr9:140704268-140704745	A549	lung:	n/a	n/a
24	POLR2A	chr9:140704215-140704801	A549	lung:	n/a	n/a
25	POU2F2	chr9:140704276-140704797	GM12878	blood:	n/a	n/a
26	SPI1	chr9:140703179-140704272	GM12878	blood:	n/a	n/a
27	SRF	chr9:140704248-140704753	GM12878	blood:	n/a	n/a
28	TCF3	chr9:140704174-140704806	GM12878	blood:	n/a	n/a
29	ZEB1	chr9:140704645-140704903	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140704398-140704448	RPTEC	kidney:	n/a
2	chr9:140704065-140704115	Caco-2	colon:	n/a
3	chr9:140704398-140704448	Caco-2	colon:	n/a
4	chr9:140704398-140704448	NHDF-neo	bronchial:	n/a
5	chr9:140704398-140704448	NT2-D1	testis:	n/a
6	chr9:140704398-140704448	HNPCEpiC	eye:	n/a
7	chr9:140704398-140704448	AG09319	gingival:	n/a
8	chr9:140704065-140704115	SK-N-SH_RA	brain:	n/a
9	chr9:140704398-140704448	Jurkat	blood:	n/a
10	chr9:140704065-140704115	HRCEpiC	kidney:	n/a
11	chr9:140704398-140704448	HEEpiC	esophagus:	n/a
12	chr9:140704398-140704448	GM12891	blood:	n/a
13	chr9:140704065-140704115	H1-hESC	embryonic stem cell:	embryo
14	chr9:140704065-140704115	HIPEpiC	eye:	n/a
15	chr9:140704398-140704448	HL-60	blood:	n/a
16	chr9:140704398-140704448	HIPEpiC	eye:	n/a
17	chr9:140704398-140704448	SKMC	muscle:	n/a
18	chr9:140704398-140704448	AG04450	lung:	fetal
19	chr9:140704398-140704448	HRCEpiC	kidney:	n/a
20	chr9:140704398-140704448	HAEpiC	amniotic membrane:	n/a
21	chr9:140704065-140704115	HEK293	kidney:	embryo
22	chr9:140704065-140704115	HCM	heart:	n/a
23	chr9:140704398-140704448	MCF-7	breast:	n/a
24	chr9:140704065-140704115	NB4	blood:	n/a
25	chr9:140704065-140704115	CMK	blood:	n/a
26	chr9:140704065-140704115	A549	lung:	n/a
27	chr9:140704398-140704448	AG04449	skin:	fetal
28	chr9:140704398-140704448	LNCaP	prostate:	n/a
29	chr9:140704065-140704115	GM19239	blood:	n/a
30	chr9:140704065-140704115	SK-N-MC	brain:	n/a
31	chr9:140704398-140704448	ovcar-3	ovarian:	n/a
32	chr9:140704398-140704448	HRE	kidney:	n/a
33	chr9:140704398-140704448	Hela-S3	cervix:	n/a
34	chr9:140704398-140704448	HepG2	liver:	n/a
35	chr9:140704065-140704115	PFSK-1	brain:	n/a
36	chr9:140704065-140704115	MCF10A-Er-Src	breast:	n/a
37	chr9:140704398-140704448	BJ	skin:	n/a
38	chr9:140704065-140704115	AG10803	skin:	n/a
39	chr9:140704398-140704448	ProgFib	skin:	n/a
40	chr9:140704065-140704115	HL-60	blood:	n/a
41	chr9:140704398-140704448	U87	brain:	n/a
42	chr9:140704398-140704448	HEK293	kidney:	embryo
43	chr9:140704398-140704448	HPAEpiC	pulmonary alveolar:	n/a
44	chr9:140704398-140704448	HMEC	breast:	n/a
45	chr9:140704398-140704448	NH-A	brain:	n/a
46	chr9:140704398-140704448	HCPEpiC	choroid plexus:	n/a
47	chr9:140704398-140704448	AG10803	skin:	n/a
48	chr9:140704398-140704448	HCF	heart:	n/a
49	chr9:140704398-140704448	GM06990	blood:	n/a
50	chr9:140704398-140704448	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140701752..140704462-chr9:140707799..140711263,3	MCF-7	breast:
2	chr9:140679440..140682132-chr9:140702994..140705523,2	K562	blood:
3	chr9:140700980..140705198-chr9:140707876..140710677,3	K562	blood:

No data

Variant related genes	Relation type
EHMT1	TF binding region
EHMT1	CpG island
ENSG00000181090	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574185485	chr9:140704122-140704123	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376405464	chr9:140704182-140704183	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542788798	chr9:140704204-140704205	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561490078	chr9:140704213-140704214	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527395588	chr9:140704214-140704215	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117340399	chr9:140704258-140704259	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563950325	chr9:140704289-140704290	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376825983	chr9:140704291-140704292	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549842280	chr9:140704296-140704297	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112563207	chr9:140704304-140704305	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs113447869	chr9:140704315-140704316	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529146789	chr9:140704324-140704325	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112354232	chr9:140704327-140704328	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113236888	chr9:140704339-140704340	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146778037	chr9:140704340-140704341	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112973105	chr9:140704345-140704346	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535125502	chr9:140704357-140704358	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558200709	chr9:140704358-140704359	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112751993	chr9:140704374-140704375	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs55853908	chr9:140704392-140704393	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs56009763	chr9:140704404-140704405	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371878015	chr9:140704409-140704410	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs55679272	chr9:140704418-140704419	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs55676822	chr9:140704421-140704422	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113428285	chr9:140704436-140704437	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55646568	chr9:140704451-140704452	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55974228	chr9:140704457-140704458	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56191777	chr9:140704458-140704459	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56015872	chr9:140704465-140704466	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs56064095	chr9:140704468-140704469	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537435194	chr9:140704481-140704482	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56161614	chr9:140704492-140704493	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs56012098	chr9:140704503-140704504	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557396543	chr9:140704504-140704505	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574267910	chr9:140704505-140704506	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113180751	chr9:140704512-140704513	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111893226	chr9:140704515-140704516	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553156129	chr9:140704529-140704530	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573076657	chr9:140704531-140704532	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs55756022	chr9:140704539-140704540	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56004955	chr9:140704545-140704546	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369301679	chr9:140704550-140704551	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs55895612	chr9:140704559-140704560	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs55701336	chr9:140704562-140704563	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540742375	chr9:140704571-140704572	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564193184	chr9:140704575-140704576	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532817811	chr9:140704580-140704581	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs55963198	chr9:140704592-140704593	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55843443	chr9:140704598-140704599	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs55715701	chr9:140704599-140704600	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:140679600-140710200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:140681000-140711400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:140681200-140704400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr9:140681200-140704600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:140683600-140704200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:140688200-140710200	Weak transcription	K562	blood
9	chr9:140689600-140704600	Strong transcription	Brain Germinal Matrix	brain
10	chr9:140690200-140707000	Weak transcription	NHDF-Ad	bronchial
11	chr9:140690200-140708800	Weak transcription	Stomach Mucosa	stomach
12	chr9:140690200-140711800	Weak transcription	NH-A	brain
13	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
14	chr9:140697600-140707000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:140698000-140705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:140698000-140706000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:140698200-140706600	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:140698600-140705800	Weak transcription	Left Ventricle	heart
19	chr9:140698600-140707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:140698800-140706200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:140699600-140705800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:140699600-140706800	Weak transcription	HepG2	liver
23	chr9:140699600-140707800	Weak transcription	Brain Angular Gyrus	brain
24	chr9:140699600-140708000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:140699600-140710400	Weak transcription	Fetal Heart	heart
26	chr9:140699600-140710400	Weak transcription	Fetal Kidney	kidney
27	chr9:140699800-140705800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:140699800-140705800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:140699800-140705800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:140699800-140705800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:140699800-140706000	Weak transcription	Colonic Mucosa	Colon
32	chr9:140699800-140706800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:140700000-140705800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:140700000-140705800	Weak transcription	Brain Substantia Nigra	brain
36	chr9:140700000-140706000	Weak transcription	Brain Anterior Caudate	brain
37	chr9:140700000-140706000	Weak transcription	HSMMtube	muscle
38	chr9:140700000-140707000	Weak transcription	NHEK	skin
39	chr9:140700000-140707400	Weak transcription	Osteobl	bone
40	chr9:140700000-140707600	Weak transcription	NHLF	lung
41	chr9:140700000-140708200	Weak transcription	HMEC	breast
42	chr9:140700000-140708400	Weak transcription	HSMM	muscle
43	chr9:140700000-140710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:140701400-140704600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:140701800-140708000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:140701800-140708200	Strong transcription	Esophagus	oesophagus
48	chr9:140701800-140712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:140702000-140704200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:140702000-140704200	Strong transcription	Ovary	ovary

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