Variant report

Variant	esv3435734
Chromosome Location	chr7:99079779-99081407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99080901-99080968	K562	blood:	n/a	n/a
2	CTCF	chr7:99081060-99081210	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr7:99080840-99080990	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr7:99080820-99080970	HCT-116	colon:	n/a	n/a
5	CTCF	chr7:99080800-99080950	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr7:99080610-99081396	HCT-116	colon:	n/a	n/a
7	CTCF	chr7:99080787-99080964	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr7:99080840-99081110	K562	blood:	n/a	n/a
9	CTCF	chr7:99080780-99080930	AG09319	gingival:	n/a	n/a
10	CTCF	chr7:99080820-99080970	BE2_C	brain:	n/a	n/a
11	CTCF	chr7:99080820-99080970	HMF	breast:	n/a	n/a
12	CTCF	chr7:99080835-99081107	K562	blood:	n/a	n/a
13	CTCF	chr7:99080883-99081118	K562	blood:	n/a	n/a
14	CTCF	chr7:99080820-99080970	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr7:99081080-99081230	HCT-116	colon:	n/a	n/a
16	CTCF	chr7:99081180-99081330	NB4	blood:	n/a	n/a
17	CTCF	chr7:99080860-99081010	BE2_C	brain:	n/a	n/a
18	CTCF	chr7:99080826-99080949	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr7:99080754-99081258	K562	blood:	n/a	n/a
20	CTCF	chr7:99081020-99081170	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr7:99080820-99080970	GM12864	blood:	n/a	n/a
22	CTCF	chr7:99080720-99081197	K562	blood:	n/a	n/a
23	CTCF	chr7:99080840-99080990	HCT-116	colon:	n/a	n/a
24	CTCF	chr7:99080800-99080950	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr7:99081105-99081187	K562	blood:	n/a	n/a
26	MYC	chr7:99079799-99079823	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:99081010-99083128	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:99079700-99080132	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:99081011-99081290	K562	blood:	n/a	n/a
30	POLR2A	chr7:99079866-99080138	K562	blood:	n/a	n/a
31	POLR2A	chr7:99080541-99080860	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:99081256-99082021	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:99080944-99084072	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99080970-99083714	GM12892	blood:	n/a	n/a
35	POLR2A	chr7:99080926-99081387	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:99080649-99080729	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr7:99079695-99080595	GM12892	blood:	n/a	n/a
38	POLR2A	chr7:99081034-99081218	K562	blood:	n/a	n/a
39	POLR2A	chr7:99079675-99080334	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:99081275-99081488	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:99080276-99080481	K562	blood:	n/a	n/a
42	POLR2A	chr7:99079899-99080010	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:99080533-99080887	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:99080079-99080207	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:99081320-99083212	GM12891	blood:	n/a	n/a
46	POLR2A	chr7:99079660-99080203	GM12892	blood:	n/a	n/a
47	POLR2A	chr7:99079816-99079844	MCF-7	breast:	n/a	n/a
48	POLR2A	chr7:99080285-99080528	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:99080240-99080268	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:99079804-99079810	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99078176..99080245-chr7:99100988..99102755,2	K562	blood:
2	chr7:99078176..99080245-chr7:99100988..99102755,3	K562	blood:
3	chr7:99070549..99074806-chr7:99079713..99086160,8	K562	blood:
4	chr7:99076875..99080200-chr7:99096224..99098746,3	MCF-7	breast:
5	chr7:99036051..99038082-chr7:99079952..99081854,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPSF4-1	chr7:99075897-99079949	NONHSAT122245

No data

Variant related genes	Relation type
ZNF789	TF binding region
ENSG00000160917	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000198556	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000160908	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534387550	chr7:99079794-99079795	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs368457183	chr7:99079808-99079809	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs145755292	chr7:99079826-99079827	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs6952385	chr7:99079843-99079844	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200228303	chr7:99079844-99079845	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs201545224	chr7:99079845-99079846	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs574471265	chr7:99079881-99079882	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs189069975	chr7:99079901-99079902	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs557013806	chr7:99079909-99079910	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs575284007	chr7:99079911-99079912	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs546147635	chr7:99079916-99079917	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs564360118	chr7:99079925-99079926	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs572997881	chr7:99079928-99079929	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs79905628	chr7:99079962-99079963	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs10273355	chr7:99080011-99080012	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529395082	chr7:99080057-99080058	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs550624186	chr7:99080087-99080088	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs62471899	chr7:99080113-99080114	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533133957	chr7:99080133-99080134	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs190772347	chr7:99080169-99080170	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs567145322	chr7:99080195-99080196	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs372998516	chr7:99080215-99080216	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs534173904	chr7:99080220-99080221	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs11771867	chr7:99080225-99080226	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs10244158	chr7:99080244-99080245	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567724600	chr7:99080252-99080253	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs535568175	chr7:99080253-99080254	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs182454755	chr7:99080307-99080308	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs12386578	chr7:99080353-99080354	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138044155	chr7:99080371-99080372	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs557817585	chr7:99080394-99080395	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs531570353	chr7:99080410-99080411	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs568493893	chr7:99080484-99080485	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs116731319	chr7:99080521-99080522	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs540112922	chr7:99080528-99080529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs561933160	chr7:99080581-99080582	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs573724363	chr7:99080587-99080588	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs187110160	chr7:99080613-99080614	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs562625355	chr7:99080615-99080616	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs370417496	chr7:99080619-99080620	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs533193213	chr7:99080665-99080666	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551358633	chr7:99080670-99080671	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs560240448	chr7:99080681-99080682	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs191678717	chr7:99080713-99080714	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs369687020	chr7:99080857-99080858	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs537510544	chr7:99080931-99080932	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs184231308	chr7:99080966-99080967	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs111717672	chr7:99080995-99080996	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538426449	chr7:99081025-99081026	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550737908	chr7:99081069-99081070	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99071200-99091000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:99071200-99091600	Weak transcription	Small Intestine	intestine
3	chr7:99071400-99081600	Weak transcription	Right Ventricle	heart
4	chr7:99071400-99090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:99071400-99090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:99071400-99090600	Weak transcription	Right Atrium	heart
7	chr7:99071400-99096200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:99071600-99090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:99071600-99091200	Weak transcription	Fetal Heart	heart
10	chr7:99071800-99080200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:99071800-99081800	Weak transcription	Pancreas	Pancrea
12	chr7:99071800-99084400	Weak transcription	Fetal Brain Male	brain
13	chr7:99071800-99088600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:99071800-99090400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:99071800-99090400	Weak transcription	Brain Angular Gyrus	brain
16	chr7:99071800-99090400	Weak transcription	Psoas Muscle	Psoas
17	chr7:99071800-99090600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:99071800-99091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:99072000-99086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:99072400-99083600	Weak transcription	Stomach Mucosa	stomach
21	chr7:99072600-99091200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:99073000-99080000	Strong transcription	Brain Germinal Matrix	brain
23	chr7:99073200-99082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:99073600-99080200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:99073600-99080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:99073600-99084400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:99073800-99080200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:99073800-99080200	Strong transcription	A549	lung
29	chr7:99073800-99081600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:99073800-99083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:99073800-99085000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:99074000-99080200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:99074000-99080200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:99074000-99080200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:99074000-99080200	Strong transcription	Osteobl	bone
36	chr7:99074000-99083600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:99074000-99084600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:99074000-99090400	Weak transcription	Colonic Mucosa	Colon
39	chr7:99074200-99080800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:99074600-99083200	Strong transcription	Dnd41	blood
41	chr7:99075400-99083200	Strong transcription	Fetal Brain Female	brain
42	chr7:99075600-99080200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:99075600-99080600	Strong transcription	Liver	Liver
44	chr7:99076000-99084400	Weak transcription	Fetal Kidney	kidney
45	chr7:99076200-99079800	Weak transcription	HSMM	muscle
46	chr7:99076400-99081600	Weak transcription	Aorta	Aorta
47	chr7:99076600-99081600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:99076600-99085400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:99076600-99090400	Weak transcription	Lung	lung
50	chr7:99076800-99080600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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