Variant report

Variant	esv1829966
Chromosome Location	chr7:128201902-128248697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:128236826-128237205	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:128237459-128237583	HepG2	liver:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
3	CEBPB	chr7:128237402-128237499	K562	blood:	n/a	chr7:128237480-128237491
4	CEBPB	chr7:128237455-128237571	A549	lung:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
5	CEBPB	chr7:128220859-128221190	IMR90	lung:	n/a	chr7:128221057-128221068
6	CEBPB	chr7:128215391-128215634	MCF-7	breast:	n/a	n/a
7	CEBPB	chr7:128215390-128215586	K562	blood:	n/a	n/a
8	CEBPB	chr7:128237452-128237652	IMR90	lung:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
9	CEBPB	chr7:128215356-128215597	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr7:128215373-128215559	K562	blood:	n/a	n/a
11	CEBPB	chr7:128237404-128237632	MCF-7	breast:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
12	CTCF	chr7:128248520-128248670	AG09319	gingival:	n/a	n/a
13	CTCF	chr7:128231921-128232022	GM10248	blood:	n/a	n/a
14	CTCF	chr7:128248220-128248278	GM13977	blood:	n/a	n/a
15	CTCF	chr7:128248520-128248670	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr7:128239249-128239317	GM20000	blood:	n/a	n/a
17	CTCF	chr7:128225620-128225770	A549	lung:	n/a	n/a
18	CTCF	chr7:128229502-128229537	GM10248	blood:	n/a	n/a
19	CTCF	chr7:128246346-128246377	GM13976	blood:	n/a	n/a
20	CTCF	chr7:128248199-128248266	GM10266	blood:	n/a	n/a
21	CTCF	chr7:128239112-128239198	GM10248	blood:	n/a	n/a
22	CTCF	chr7:128236773-128236789	GM10248	blood:	n/a	n/a
23	CTCF	chr7:128248460-128248610	AG09319	gingival:	n/a	n/a
24	CTCF	chr7:128248440-128248730	BJ	skin:	n/a	n/a
25	CTCF	chr7:128213060-128213210	GM12869	blood:	n/a	n/a
26	E2F4	chr7:128231959-128231962	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr7:128234271-128234475	K562	blood:	n/a	n/a
28	EP300	chr7:128236794-128237159	HepG2	liver:	n/a	n/a
29	EP300	chr7:128231802-128232136	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr7:128236858-128237087	HepG2	liver:	n/a	n/a
31	EP300	chr7:128231685-128232243	SK-N-SH	brain:	n/a	n/a
32	EP300	chr7:128231798-128232105	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr7:128236777-128237146	HepG2	liver:	n/a	n/a
34	FOS	chr7:128221228-128221426	HUVEC	blood vessel:	n/a	chr7:128221331-128221342
35	FOS	chr7:128221058-128221486	MCF10A-Er-Src	breast:	n/a	chr7:128221331-128221342
36	FOS	chr7:128221164-128221487	MCF10A-Er-Src	breast:	n/a	chr7:128221331-128221342
37	FOS	chr7:128221163-128221484	MCF10A-Er-Src	breast:	n/a	chr7:128221331-128221342
38	FOS	chr7:128221164-128221513	MCF10A-Er-Src	breast:	n/a	chr7:128221331-128221342
39	FOSL2	chr7:128236487-128237084	HepG2	liver:	n/a	n/a
40	FOXA1	chr7:128236762-128237138	HepG2	liver:	n/a	n/a
41	FOXA1	chr7:128236714-128237089	HepG2	liver:	n/a	n/a
42	FOXA1	chr7:128236736-128237189	HepG2	liver:	n/a	n/a
43	FOXA1	chr7:128236546-128236901	T-47D	breast:	n/a	n/a
44	FOXA1	chr7:128236469-128237184	HepG2	liver:	n/a	n/a
45	FOXA2	chr7:128236864-128237097	HepG2	liver:	n/a	n/a
46	FOXA2	chr7:128234093-128234303	HepG2	liver:	n/a	n/a
47	GATA2	chr7:128231771-128232197	SH-SY5Y	brain:	n/a	chr7:128232156-128232166 chr7:128232145-128232162 chr7:128232156-128232163 chr7:128232154-128232164 chr7:128231853-128231860 chr7:128232154-128232163 chr7:128232151-128232167
48	GATA2	chr7:128220056-128220215	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr7:128236499-128236837	T-47D	breast:	n/a	n/a
50	GATA3	chr7:128236486-128236846	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128115467..128118009-chr7:128236497..128238346,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71F2-7	chr7:128244104-128244312	expReg_chr7_9764_+

Variant related genes	Relation type
ENSG00000213280	TF binding region
ENSG00000165055	chromatin interactions

Extended variants
information (count: 1777 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1777 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143866678	chr7:128201902-128201903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs568379313	chr7:128201932-128201933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540382310	chr7:128201968-128201969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35897277	chr7:128201983-128201984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561960057	chr7:128201989-128201990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533804837	chr7:128202001-128202002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13241754	chr7:128202016-128202017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115833718	chr7:128202022-128202023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2732362	chr7:128202111-128202112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545064771	chr7:128202134-128202135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56864555	chr7:128202135-128202136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397942999	chr7:128202148-128202149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553441197	chr7:128202203-128202204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550824157	chr7:128202361-128202362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562884793	chr7:128202458-128202459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373030323	chr7:128202489-128202490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2443110	chr7:128202577-128202578	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs554787595	chr7:128202599-128202600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368324722	chr7:128202633-128202634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115543005	chr7:128202649-128202650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148623568	chr7:128202650-128202651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576150950	chr7:128202653-128202654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371147626	chr7:128202671-128202672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568285981	chr7:128202786-128202787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182933704	chr7:128202814-128202815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188544785	chr7:128202870-128202871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556816626	chr7:128202879-128202880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575167404	chr7:128202883-128202884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10250369	chr7:128202890-128202891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs192760588	chr7:128202902-128202903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560127677	chr7:128202921-128202922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370961885	chr7:128203030-128203031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376783704	chr7:128203031-128203032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71160680	chr7:128203066-128203067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374510024	chr7:128203067-128203068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11770016	chr7:128203069-128203070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184821066	chr7:128203073-128203074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540544586	chr7:128203076-128203077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576288484	chr7:128203110-128203111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561924217	chr7:128203113-128203114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12669878	chr7:128203134-128203135	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs71578276	chr7:128203177-128203178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200247908	chr7:128203259-128203260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13245877	chr7:128203269-128203270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76280745	chr7:128203293-128203294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs562885291	chr7:128203344-128203345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533468126	chr7:128203409-128203410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572203248	chr7:128203467-128203468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551443675	chr7:128203494-128203495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560494828	chr7:128203542-128203543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128172600-128214800	Weak transcription	Gastric	stomach
3	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
4	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
5	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
6	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:128174000-128210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:128174000-128220600	Weak transcription	NHLF	lung
11	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
14	chr7:128176000-128214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
17	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
18	chr7:128183000-128214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:128183400-128214800	Weak transcription	HUVEC	blood vessel
20	chr7:128183600-128214800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:128185000-128210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:128185200-128210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:128187400-128212400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:128187600-128205200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:128187600-128213800	Weak transcription	Osteobl	bone
28	chr7:128187600-128214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:128187600-128232000	Weak transcription	NH-A	brain
30	chr7:128187800-128214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:128188000-128208800	Weak transcription	K562	blood
32	chr7:128188000-128210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:128188000-128213800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:128188000-128213800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:128188000-128214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:128188000-128214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:128188000-128215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:128188000-128215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:128188000-128220800	Weak transcription	NHEK	skin
40	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
41	chr7:128188200-128215000	Weak transcription	Hela-S3	cervix
42	chr7:128188200-128229800	Weak transcription	HSMM	muscle
43	chr7:128188400-128209000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:128188400-128210000	Weak transcription	Placenta	Placenta
45	chr7:128188400-128210400	Weak transcription	Primary B cells from cord blood	blood
46	chr7:128188400-128210400	Weak transcription	Fetal Lung	lung
47	chr7:128188400-128210600	Weak transcription	Spleen	Spleen
48	chr7:128188400-128212400	Weak transcription	Lung	lung
49	chr7:128188400-128214800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood

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