Variant report

Variant	esv3477439
Chromosome Location	chr7:101972607-101974104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:101972460-101972610	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr7:101972460-101972610	GM12875	blood:	n/a	n/a
3	CTCF	chr7:101972500-101972650	GM12866	blood:	n/a	n/a
4	CTCF	chr7:101972460-101972610	GM12864	blood:	n/a	n/a
5	CTCF	chr7:101972410-101972692	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:101972520-101972670	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr7:101972480-101972630	A549	lung:	n/a	n/a
8	CTCF	chr7:101972560-101972710	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr7:101972460-101972610	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr7:101972500-101972650	BE2_C	brain:	n/a	n/a
11	CTCF	chr7:101972480-101972630	HCT-116	colon:	n/a	n/a
12	CTCF	chr7:101972500-101972650	AG04450	lung:	n/a	n/a
13	CTCF	chr7:101972520-101972670	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr7:101972452-101972790	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:101972480-101972630	HepG2	liver:	n/a	n/a
16	CTCF	chr7:101972460-101972610	GM12873	blood:	n/a	n/a
17	CTCF	chr7:101972500-101972650	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:101972520-101972670	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:101972532-101972668	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:101972533-101972643	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:101972520-101972670	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr7:101972560-101972710	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr7:101972500-101972650	GM12865	blood:	n/a	n/a
24	CTCF	chr7:101972460-101972610	HAc	cerebellar:	n/a	n/a
25	CTCF	chr7:101972500-101972650	NHEK	skin:	n/a	n/a
26	CTCF	chr7:101972480-101972630	HRE	kidney:	n/a	n/a
27	CTCF	chr7:101972520-101972670	HEK293	kidney:	n/a	n/a
28	CTCF	chr7:101972480-101972630	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:101972460-101972750	GM12870	blood:	n/a	n/a
30	CTCF	chr7:101972520-101972670	GM12864	blood:	n/a	n/a
31	CTCF	chr7:101972480-101972630	Caco-2	colon:	n/a	n/a
32	CTCF	chr7:101972500-101972650	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr7:101972480-101972630	GM12867	blood:	n/a	n/a
34	CTCF	chr7:101972500-101972650	HCT-116	colon:	n/a	n/a
35	CTCF	chr7:101972500-101972650	GM12873	blood:	n/a	n/a
36	RAD21	chr7:101972466-101972653	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr7:101972317-101972812	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP1	chr7:101972306-101972777	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr7:101972417-101972730	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr7:101972495-101972686	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr7:101972369-101972744	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr7:101972338-101972804	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZBTB7A	chr7:101973491-101973643	K562	blood:	n/a	n/a
44	ZNF143	chr7:101972515-101972656	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:101969853..101972657-chr7:102004064..102005598,2	MCF-7	breast:
2	chr7:101965469..101968383-chr7:101972225..101973731,2	K562	blood:
3	chr7:101962260..101964912-chr7:101971375..101973484,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228546	TF binding region
ENSG00000200552	TF binding region
ENSG00000170409	TF binding region
ENSG00000239969	chromatin interactions
ENSG00000128563	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117353075	chr7:101972634-101972635	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs572467087	chr7:101972696-101972697	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs139413397	chr7:101972733-101972734	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs150032899	chr7:101972734-101972735	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs576304787	chr7:101972742-101972743	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs543749260	chr7:101972776-101972777	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs145377401	chr7:101972777-101972778	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs577323678	chr7:101972778-101972779	Enhancers Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
9	rs541290296	chr7:101972816-101972817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559365642	chr7:101972840-101972841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182000186	chr7:101972872-101972873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548187535	chr7:101972879-101972880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563321240	chr7:101972880-101972881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185622295	chr7:101972881-101972882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552459335	chr7:101972926-101972927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571961572	chr7:101972928-101972929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540239049	chr7:101972967-101972968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71286260	chr7:101972980-101972981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200024052	chr7:101973012-101973013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534785788	chr7:101973019-101973020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28438647	chr7:101973021-101973022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2529105	chr7:101973039-101973040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190531890	chr7:101973192-101973193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577288769	chr7:101973217-101973218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148844434	chr7:101973233-101973234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374341946	chr7:101973238-101973239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144061480	chr7:101973254-101973255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2529106	chr7:101973255-101973256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558797483	chr7:101973259-101973260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146458386	chr7:101973288-101973289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73712464	chr7:101973315-101973316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559727261	chr7:101973327-101973328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574473446	chr7:101973343-101973344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541984999	chr7:101973349-101973350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140770062	chr7:101973357-101973358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530468471	chr7:101973361-101973362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563130803	chr7:101973364-101973365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533341796	chr7:101973365-101973366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180880827	chr7:101973393-101973394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564371337	chr7:101973394-101973395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528408829	chr7:101973504-101973505	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs546750666	chr7:101973523-101973524	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs78875914	chr7:101973543-101973544	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs564307573	chr7:101973572-101973573	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs548231428	chr7:101973592-101973593	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs113177858	chr7:101973713-101973714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537013873	chr7:101973739-101973740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558719008	chr7:101973744-101973745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185933933	chr7:101973759-101973760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535056687	chr7:101973826-101973827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101944000-101975400	Weak transcription	Right Atrium	heart
2	chr7:101962000-101973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101968000-101975400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:101971600-101972800	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:101971800-101974200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:101972200-101972800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:101972200-101972800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:101972200-101973400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:101972600-101973400	Enhancers	GM12878-XiMat	blood
10	chr7:101972600-101973600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:101972800-101973600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:101972800-101973800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:101972800-101980800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:101973200-101973600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:101973400-101973600	Enhancers	Fetal Kidney	kidney
16	chr7:101973400-101974200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:101973400-101975200	Weak transcription	GM12878-XiMat	blood
18	chr7:101973600-101974200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:101973600-101974800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:101973800-101974000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:101973800-101974000	Enhancers	HUES64 Cell Line	embryonic stem cell

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