Variant report

Variant	esv3477492
Chromosome Location	chr7:129298416-129304014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
2	chr7:129303280..129305949-chr7:129417875..129421577,3	K562	blood:
3	chr7:129303862..129304866-chr7:129650718..129651307,3	MCF-7	breast:
4	chr7:129304013..129304684-chr7:129465631..129466183,2	MCF-7	breast:
5	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
6	chr7:129302797..129305366-chr7:129652511..129655155,2	MCF-7	breast:
7	chr7:129275095..129276059-chr7:129303973..129304920,2	K562	blood:
8	chr7:129303980..129305044-chr7:129649293..129651486,10	K562	blood:
9	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
10	chr7:129303349..129305568-chr7:129461167..129463400,2	K562	blood:
11	chr7:129303898..129304485-chr7:129418948..129419668,2	K562	blood:
12	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:
13	chr7:129300901..129303855-chr7:129648023..129650206,2	K562	blood:
14	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
15	chr7:129303978..129305426-chr7:129469553..129470544,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244036	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201852973	chr7:129298437-129298438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74812910	chr7:129298439-129298440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565957562	chr7:129298443-129298444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533987153	chr7:129298469-129298470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549312972	chr7:129298493-129298494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567664673	chr7:129298500-129298501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190200680	chr7:129298535-129298536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556818459	chr7:129298536-129298537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs71581769	chr7:129298582-129298583	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75600777	chr7:129298592-129298593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182644153	chr7:129298606-129298607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34042047	chr7:129298667-129298668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34472002	chr7:129298675-129298676	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74519611	chr7:129298676-129298677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373542410	chr7:129298707-129298708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554757001	chr7:129298770-129298771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147724498	chr7:129298813-129298814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149208402	chr7:129298836-129298837	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542264178	chr7:129298844-129298845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560903333	chr7:129298872-129298873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376392464	chr7:129298914-129298915	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs575753202	chr7:129299024-129299025	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188279542	chr7:129299068-129299069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs57334755	chr7:129299098-129299099	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561487578	chr7:129299122-129299123	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532216886	chr7:129299133-129299134	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547189814	chr7:129299199-129299200	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559390824	chr7:129299208-129299209	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529961394	chr7:129299218-129299219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368943989	chr7:129299263-129299264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567624451	chr7:129299270-129299271	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192243319	chr7:129299330-129299331	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531906954	chr7:129299361-129299362	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143397798	chr7:129299392-129299393	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79497918	chr7:129299459-129299460	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571765559	chr7:129299483-129299484	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542735693	chr7:129299495-129299496	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539237938	chr7:129299523-129299524	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554298925	chr7:129299525-129299526	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193199343	chr7:129299532-129299533	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566256872	chr7:129299564-129299565	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138234914	chr7:129299570-129299571	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554941182	chr7:129299571-129299572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6953077	chr7:129299662-129299663	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116170192	chr7:129299678-129299679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558279464	chr7:129299705-129299706	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576485727	chr7:129299814-129299815	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6957596	chr7:129299890-129299891	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559465315	chr7:129299932-129299933	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548925470	chr7:129299942-129299943	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129286600-129299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129286600-129301600	Weak transcription	HSMMtube	muscle
4	chr7:129286800-129304400	Weak transcription	NHLF	lung
5	chr7:129287200-129301600	Weak transcription	Psoas Muscle	Psoas
6	chr7:129287800-129299600	Weak transcription	NH-A	brain
7	chr7:129289200-129314000	Weak transcription	Fetal Brain Male	brain
8	chr7:129290000-129299600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:129290000-129325800	Weak transcription	Stomach Mucosa	stomach
10	chr7:129290400-129304600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:129290600-129299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:129293600-129301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:129293800-129311200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:129293800-129311400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:129294000-129300400	Weak transcription	Fetal Brain Female	brain
16	chr7:129296600-129299600	Strong transcription	Fetal Thymus	thymus
17	chr7:129296600-129301600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:129296800-129299000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:129296800-129299400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:129296800-129299400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:129296800-129300600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:129296800-129300600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:129296800-129301400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:129297000-129298600	Strong transcription	Thymus	Thymus
25	chr7:129297000-129298800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:129297000-129299200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:129297000-129299200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:129297000-129299200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:129297000-129299400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:129297000-129299400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr7:129297000-129299400	Strong transcription	GM12878-XiMat	blood
32	chr7:129297000-129299600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:129297000-129299600	Strong transcription	K562	blood
34	chr7:129297000-129300200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:129297000-129300200	Strong transcription	Primary T cells from cord blood	blood
36	chr7:129297000-129300200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:129297000-129300400	Strong transcription	Primary B cells from cord blood	blood
38	chr7:129297000-129300400	Strong transcription	Fetal Intestine Large	intestine
39	chr7:129297000-129300400	Strong transcription	Placenta	Placenta
40	chr7:129297000-129300600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:129297000-129300800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:129297000-129301000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:129297000-129301000	Strong transcription	Osteobl	bone
44	chr7:129297000-129301600	Strong transcription	Fetal Lung	lung
45	chr7:129297000-129301600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:129297000-129302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:129297000-129302200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:129297000-129302200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:129297200-129298600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:129297200-129298600	Strong transcription	Brain Substantia Nigra	brain

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