Variant report

Variant	esv1799574
Chromosome Location	chr7:38259283-38265368
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:38147469..38148161-chr7:38261438..38262362,2	MCF-7	breast:
2	chr7:38146737..38148304-chr7:38261624..38262803,9	K562	blood:
3	chr7:38261793..38262727-chr7:38358272..38359096,4	MCF-7	breast:
4	chr7:38262120..38263756-chr7:38264423..38267221,2	K562	blood:
5	chr7:38255012..38257306-chr7:38260650..38262240,2	K562	blood:
6	chr7:38263678..38267697-chr7:38270258..38274189,5	K562	blood:
7	chr7:38261872..38262390-chr7:38358243..38358960,2	MCF-7	breast:
8	chr7:38145292..38146218-chr7:38261831..38262510,3	K562	blood:
9	chr7:38262120..38263756-chr7:38264423..38267221,2	K562	blood:
10	chr7:38262524..38265185-chr7:38273332..38275255,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211695	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188025878	chr7:38259297-38259298	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs367679389	chr7:38259307-38259308	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs534988815	chr7:38259335-38259336	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs538028956	chr7:38259348-38259349	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs2392540	chr7:38259354-38259355	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs578100348	chr7:38259429-38259430	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs150678413	chr7:38259467-38259468	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs560225708	chr7:38259489-38259490	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs557691570	chr7:38259491-38259492	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs574246582	chr7:38259517-38259518	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs139509840	chr7:38259521-38259522	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs149694660	chr7:38259524-38259525	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs192996538	chr7:38259564-38259565	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs147758950	chr7:38259638-38259639	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542259715	chr7:38259656-38259657	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530469353	chr7:38259693-38259694	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114473785	chr7:38259694-38259695	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115059504	chr7:38259826-38259827	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529862469	chr7:38259931-38259932	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546499641	chr7:38259946-38259947	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566686354	chr7:38259959-38259960	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139477554	chr7:38259961-38259962	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575039009	chr7:38259976-38259977	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571622934	chr7:38259977-38259978	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376241158	chr7:38260012-38260013	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs560996356	chr7:38260022-38260023	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs77334099	chr7:38260025-38260026	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs557654893	chr7:38260032-38260033	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs567983574	chr7:38260041-38260042	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs4520068	chr7:38260055-38260056	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553278827	chr7:38260091-38260092	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs12701609	chr7:38260098-38260099	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565115678	chr7:38260136-38260137	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs544771788	chr7:38260139-38260140	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs573461710	chr7:38260188-38260189	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs558232074	chr7:38260196-38260197	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs147637056	chr7:38260205-38260206	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs149119404	chr7:38260214-38260215	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs560819604	chr7:38260263-38260264	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs529925162	chr7:38260335-38260336	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs542469685	chr7:38260346-38260347	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs540555038	chr7:38260356-38260357	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs182571472	chr7:38260365-38260366	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs79773306	chr7:38260366-38260367	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs370630575	chr7:38260371-38260372	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs571787790	chr7:38260377-38260378	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs117337251	chr7:38260417-38260418	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs550974653	chr7:38260422-38260423	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs10480165	chr7:38260423-38260424	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs536532312	chr7:38260433-38260434	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38236800-38261600	Weak transcription	HMEC	breast
2	chr7:38237800-38261600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:38238600-38268800	Weak transcription	Esophagus	oesophagus
4	chr7:38251200-38261400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:38251600-38270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:38251800-38270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:38252000-38272400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:38252000-38273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:38253800-38267400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:38254200-38261600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:38254400-38263200	Strong transcription	HSMMtube	muscle
12	chr7:38254600-38259800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:38255000-38268800	Weak transcription	Gastric	stomach
14	chr7:38255400-38260200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:38255400-38264800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:38255400-38267400	Weak transcription	Stomach Mucosa	stomach
17	chr7:38255400-38271800	Weak transcription	Small Intestine	intestine
18	chr7:38255600-38260400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:38255600-38263000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:38255600-38264600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:38255600-38268600	Weak transcription	Pancreas	Pancrea
22	chr7:38255800-38261600	Strong transcription	Fetal Brain Female	brain
23	chr7:38255800-38262000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:38255800-38264400	Strong transcription	GM12878-XiMat	blood
25	chr7:38256000-38260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:38256000-38261800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr7:38256000-38262000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:38256000-38263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:38256000-38264400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:38256200-38259800	Strong transcription	Aorta	Aorta
31	chr7:38256200-38260600	Strong transcription	Brain Germinal Matrix	brain
32	chr7:38256200-38261600	Strong transcription	NHLF	lung
33	chr7:38256200-38261800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:38256200-38261800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:38256200-38262000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:38256200-38262000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:38256200-38262600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:38256200-38264400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:38256200-38264400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:38256200-38265400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:38256200-38268800	Strong transcription	HSMM	muscle
42	chr7:38256400-38259800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:38256400-38260000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr7:38256400-38260600	Strong transcription	Left Ventricle	heart
45	chr7:38256400-38260800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:38256400-38261400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:38256400-38261400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:38256400-38261600	Strong transcription	Adipose Nuclei	Adipose
49	chr7:38256400-38261600	Strong transcription	NHDF-Ad	bronchial
50	chr7:38256400-38261800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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