Variant report

Variant	esv1792359
Chromosome Location	chr7:22377636-22391198
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:22383332..22385281-chr7:22391163..22392665,3	K562	blood:
2	chr7:22377860..22380103-chr7:22388020..22389955,2	K562	blood:
3	chr7:22383521..22386043-chr7:22390326..22392664,3	K562	blood:
4	chr7:22383332..22385281-chr7:22391163..22392665,3	K562	blood:
5	chr7:22386235..22387769-chr7:22390582..22392428,2	MCF-7	breast:
6	chr7:22387545..22389615-chr7:22393294..22394919,2	MCF-7	breast:
7	chr7:22388247..22390670-chr7:22394895..22396584,2	MCF-7	breast:
8	chr7:22390336..22392269-chr7:22472031..22473610,2	MCF-7	breast:
9	chr7:22381601..22384539-chr7:22384625..22386139,2	K562	blood:
10	chr7:22385617..22387742-chr7:22389122..22391158,2	MCF-7	breast:
11	chr7:22389519..22393797-chr7:22394454..22398682,6	K562	blood:
12	chr7:22385617..22387742-chr7:22389122..22391158,2	MCF-7	breast:
13	chr7:22381601..22384210-chr7:22384293..22386139,2	K562	blood:
14	chr7:22383521..22386043-chr7:22390326..22392664,3	K562	blood:
15	chr7:22386483..22389270-chr7:22442751..22444384,2	MCF-7	breast:
16	chr7:22381601..22384539-chr7:22384625..22386139,2	K562	blood:
17	chr7:22377860..22380103-chr7:22388020..22389955,2	K562	blood:
18	chr7:22386235..22387769-chr7:22390582..22392428,2	MCF-7	breast:
19	chr7:22381601..22384210-chr7:22384293..22386139,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136237	chromatin interactions

Extended variants
information (count: 500 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1522279	chr7:22377636-22377637	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561544109	chr7:22377637-22377638	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574969941	chr7:22377658-22377659	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543988214	chr7:22377671-22377672	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117041088	chr7:22377677-22377678	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184869111	chr7:22377710-22377711	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142096806	chr7:22377719-22377720	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189297311	chr7:22377723-22377724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527270973	chr7:22377725-22377726	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181618559	chr7:22377732-22377733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567540762	chr7:22377740-22377741	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536104194	chr7:22377818-22377819	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549951043	chr7:22377848-22377849	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569711324	chr7:22377849-22377850	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375663936	chr7:22377895-22377896	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539151977	chr7:22377993-22377994	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559067290	chr7:22378004-22378005	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572502442	chr7:22378047-22378048	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367997960	chr7:22378076-22378077	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151175228	chr7:22378100-22378101	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184435958	chr7:22378114-22378115	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140528144	chr7:22378116-22378117	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56392802	chr7:22378124-22378125	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563918821	chr7:22378137-22378138	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147091252	chr7:22378153-22378154	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544729162	chr7:22378176-22378177	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564620700	chr7:22378189-22378190	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75491391	chr7:22378240-22378241	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540620091	chr7:22378273-22378274	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560674678	chr7:22378283-22378284	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74565938	chr7:22378290-22378291	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374368624	chr7:22378325-22378326	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549772759	chr7:22378339-22378340	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569855305	chr7:22378373-22378374	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75674579	chr7:22378394-22378395	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552740085	chr7:22378416-22378417	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7799625	chr7:22378423-22378424	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113660004	chr7:22378469-22378470	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554954220	chr7:22378471-22378472	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568325955	chr7:22378510-22378511	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74202434	chr7:22378517-22378518	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557346350	chr7:22378527-22378528	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74668684	chr7:22378532-22378533	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80167480	chr7:22378562-22378563	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558277038	chr7:22378572-22378573	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571810927	chr7:22378593-22378594	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540729203	chr7:22378605-22378606	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138507002	chr7:22378612-22378613	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189916419	chr7:22378643-22378644	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142636843	chr7:22378662-22378663	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22370000-22383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:22370000-22384000	Weak transcription	Spleen	Spleen
4	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:22370400-22380200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:22370800-22384000	Weak transcription	Left Ventricle	heart
7	chr7:22372200-22383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:22372600-22384400	Weak transcription	NHEK	skin
9	chr7:22373400-22379200	Genic enhancers	HepG2	liver
10	chr7:22373400-22381400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:22373400-22384400	Weak transcription	Thymus	Thymus
12	chr7:22373800-22378400	Weak transcription	Lung	lung
13	chr7:22373800-22380400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:22373800-22383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:22374800-22378200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:22374800-22378400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:22374800-22378600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:22374800-22380200	Weak transcription	Fetal Intestine Large	intestine
19	chr7:22375200-22378200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:22375200-22378600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:22375200-22378600	Weak transcription	K562	blood
22	chr7:22375200-22381400	Weak transcription	Esophagus	oesophagus
23	chr7:22375400-22380000	Weak transcription	Stomach Mucosa	stomach
24	chr7:22375600-22378800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:22376400-22379400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:22376800-22378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:22376800-22379000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:22377000-22378400	Weak transcription	Pancreas	Pancrea
29	chr7:22377000-22379400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:22377200-22378400	Weak transcription	Fetal Thymus	thymus
31	chr7:22377200-22380200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:22377200-22386600	Enhancers	Liver	Liver
33	chr7:22377400-22377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:22377400-22379200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:22377400-22379600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:22377600-22378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:22377600-22379000	Strong transcription	Dnd41	blood
38	chr7:22377800-22379400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:22378000-22379000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:22378000-22379000	Enhancers	Brain Anterior Caudate	brain
41	chr7:22378200-22378400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:22378200-22379200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:22378400-22378800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:22378400-22379000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:22378400-22379200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:22378400-22380400	Enhancers	Lung	lung
47	chr7:22378400-22380800	Genic enhancers	Fetal Thymus	thymus
48	chr7:22378400-22381200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:22378400-22382000	Enhancers	Pancreas	Pancrea
50	chr7:22378600-22379000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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