Variant report

Variant	esv3406494
Chromosome Location	chr7:127990366-127992864
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127992082..127994842-chr7:128029852..128032073,3	K562	blood:
2	chr7:127989978..127992194-chr7:128000923..128002456,2	K562	blood:
3	chr7:127992322..127995114-chr7:128014039..128015819,2	K562	blood:
4	chr7:127990878..127995208-chr7:127998293..128004686,6	K562	blood:
5	chr7:127913044..127915335-chr7:127992240..127993797,2	K562	blood:
6	chr7:127988874..127991097-chr7:127995362..127997136,2	K562	blood:
7	chr7:127982362..127984093-chr7:127992558..127995177,2	MCF-7	breast:
8	chr7:127982717..127985560-chr7:127989854..127991998,3	K562	blood:
9	chr7:127992585..127993570-chr7:128027268..128027996,2	K562	blood:
10	chr7:127990359..127992194-chr7:128021875..128024379,2	MCF-7	breast:
11	chr7:127991366..127994024-chr7:128043905..128046118,2	MCF-7	breast:
12	chr7:127989814..127992283-chr7:128027367..128029799,2	MCF-7	breast:
13	chr7:127988724..127990769-chr7:127995960..127998093,2	MCF-7	breast:
14	chr7:127991141..127992839-chr7:127994705..127996789,2	K562	blood:
15	chr7:127991021..127992566-chr7:128027560..128029110,2	MCF-7	breast:
16	chr7:127988812..127991042-chr7:128030050..128032695,3	MCF-7	breast:
17	chr7:127986655..127989567-chr7:127989980..127992814,3	K562	blood:
18	chr7:127989735..127992397-chr7:128023905..128026447,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238750	chromatin interactions
ENSG00000106344	chromatin interactions
ENSG00000224940	chromatin interactions
ENSG00000106348	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116053627	chr7:127990412-127990413	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139846850	chr7:127990461-127990462	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542602248	chr7:127990478-127990479	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554618374	chr7:127990493-127990494	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs3214795	chr7:127990539-127990540	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs397792147	chr7:127990544-127990545	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs55658834	chr7:127990554-127990555	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576778667	chr7:127990563-127990564	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544072322	chr7:127990637-127990638	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs359665	chr7:127990657-127990658	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372425338	chr7:127990674-127990675	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149695561	chr7:127990678-127990679	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs541309298	chr7:127990697-127990698	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536408402	chr7:127990726-127990727	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs530145389	chr7:127990764-127990765	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs548144562	chr7:127990779-127990780	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563364488	chr7:127990781-127990782	Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553304260	chr7:127990813-127990814	Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573169333	chr7:127990851-127990852	Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs530844932	chr7:127990917-127990918	Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs550035888	chr7:127990949-127990950	Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571493333	chr7:127990977-127990978	Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs359666	chr7:127991090-127991091	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547282399	chr7:127991104-127991105	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574369468	chr7:127991116-127991117	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs891215	chr7:127991133-127991134	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs557846516	chr7:127991189-127991190	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs193184076	chr7:127991195-127991196	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536688697	chr7:127991211-127991212	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75191863	chr7:127991262-127991263	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs577469431	chr7:127991327-127991328	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541574687	chr7:127991330-127991331	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559537456	chr7:127991340-127991341	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145298449	chr7:127991440-127991441	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs34165256	chr7:127991490-127991491	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs541902137	chr7:127991571-127991572	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs563477339	chr7:127991602-127991603	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs34082547	chr7:127991614-127991615	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs373043864	chr7:127991670-127991671	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs530807269	chr7:127991678-127991679	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552338648	chr7:127991680-127991681	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs565144222	chr7:127991715-127991716	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532318746	chr7:127991731-127991732	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs547538114	chr7:127991753-127991754	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565854233	chr7:127991756-127991757	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs148769759	chr7:127991855-127991856	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs548295951	chr7:127991869-127991870	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs569813034	chr7:127991873-127991874	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537004624	chr7:127991882-127991883	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs558279481	chr7:127991926-127991927	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127988200-127992200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:127989200-127991200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr7:127989400-127990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:127990000-127991600	Weak transcription	Esophagus	oesophagus
5	chr7:127990200-127990400	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr7:127990400-127991200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:127990400-127994400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:127990800-127991200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127991000-127991200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:127991000-127991200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:127991000-127991400	Bivalent Enhancer	Fetal Brain Female	brain
12	chr7:127991000-127991400	Bivalent Enhancer	Fetal Thymus	thymus
13	chr7:127991000-127991400	Enhancers	Right Ventricle	heart
14	chr7:127991000-127991600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr7:127991000-127991600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr7:127991000-127992800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:127991000-127993000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:127991200-127991400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:127991200-127991400	Enhancers	Primary B cells from cord blood	blood
20	chr7:127991200-127991400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr7:127991200-127991400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr7:127991200-127991400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:127991200-127991400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:127991200-127991400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:127991200-127991400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:127991200-127991400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr7:127991200-127991400	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr7:127991200-127991400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr7:127991200-127991400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr7:127991200-127991400	Bivalent Enhancer	Placenta	Placenta
31	chr7:127991200-127991600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr7:127991200-127991600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:127991200-127991600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:127991200-127991600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr7:127991200-127991800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr7:127991200-127992000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:127991200-127992000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr7:127991200-127992200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:127991200-127992800	Enhancers	Spleen	Spleen
40	chr7:127991200-127993000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:127991400-127991600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr7:127991400-127991600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr7:127991400-127991600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:127991400-127991600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:127991400-127991600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:127991400-127991600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:127991400-127991600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:127991400-127991600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr7:127991400-127991600	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr7:127991400-127991600	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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