Variant report

Variant	nsv289926
Chromosome Location	chr4:166250805-166251867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166251079..166252856-chr4:166258884..166260563,2	MCF-7	breast:
2	chr4:166248835..166250547-chr4:166251406..166253034,2	MCF-7	breast:
3	chr4:166249129..166252121-chr4:166265324..166266921,2	K562	blood:
4	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:

Variant related genes	Relation type
ENSG00000109466	chromatin interactions
ENSG00000170088	chromatin interactions
ENSG00000052802	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77730099	chr4:166250805-166250806	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529883430	chr4:166250810-166250811	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184366938	chr4:166250909-166250910	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143927901	chr4:166250914-166250915	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs71618451	chr4:166250919-166250920	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4361344	chr4:166250930-166250931	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528890995	chr4:166250934-166250935	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530675138	chr4:166250937-166250938	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377006035	chr4:166251064-166251065	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150224395	chr4:166251065-166251066	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs3890624	chr4:166251068-166251069	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534723453	chr4:166251070-166251071	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62353294	chr4:166251097-166251098	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187891018	chr4:166251130-166251131	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200617052	chr4:166251158-166251159	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs542529165	chr4:166251218-166251219	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76203134	chr4:166251221-166251222	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532793932	chr4:166251235-166251236	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192451355	chr4:166251246-166251247	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540921389	chr4:166251256-166251257	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553546772	chr4:166251271-166251272	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566968882	chr4:166251280-166251281	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149511839	chr4:166251331-166251332	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539239743	chr4:166251368-166251369	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143986117	chr4:166251400-166251401	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10019675	chr4:166251411-166251412	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529919226	chr4:166251434-166251435	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78751609	chr4:166251440-166251441	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72997735	chr4:166251443-166251444	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530779160	chr4:166251449-166251450	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376207719	chr4:166251464-166251465	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570645154	chr4:166251483-166251484	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148703680	chr4:166251513-166251514	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552918731	chr4:166251568-166251569	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568120434	chr4:166251583-166251584	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146177798	chr4:166251622-166251623	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370588542	chr4:166251640-166251641	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535736678	chr4:166251670-166251671	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575912413	chr4:166251676-166251677	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557678601	chr4:166251678-166251679	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575747896	chr4:166251710-166251711	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540053777	chr4:166251736-166251737	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373951486	chr4:166251752-166251753	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141843811	chr4:166251786-166251787	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576978726	chr4:166251814-166251815	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114882261	chr4:166251837-166251838	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544553624	chr4:166251865-166251866	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:166247600-166251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:166247600-166251600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr4:166247600-166251800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:166247800-166251000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:166247800-166251000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:166247800-166251000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:166247800-166251000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:166247800-166251000	Active TSS	Fetal Intestine Small	intestine
10	chr4:166247800-166251200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:166247800-166251200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:166247800-166251400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr4:166247800-166251400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:166247800-166251400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:166247800-166251400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:166247800-166251400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:166247800-166251400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:166247800-166251400	Active TSS	GM12878-XiMat	blood
19	chr4:166247800-166251400	Active TSS	NHDF-Ad	bronchial
20	chr4:166247800-166251600	Active TSS	Fetal Intestine Large	intestine
21	chr4:166247800-166251800	Active TSS	HSMMtube	muscle
22	chr4:166247800-166253600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:166248000-166251000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:166248000-166251000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:166248000-166251000	Active TSS	NHEK	skin
26	chr4:166248000-166251000	Active TSS	NHLF	lung
27	chr4:166248000-166251200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:166248000-166251200	Active TSS	Esophagus	oesophagus
29	chr4:166248000-166251200	Active TSS	HMEC	breast
30	chr4:166248000-166251400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:166248000-166252000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:166248000-166253200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:166248000-166253600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:166249400-166251800	Flanking Active TSS	HUVEC	blood vessel
35	chr4:166249600-166251400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:166249600-166251600	Active TSS	Fetal Brain Male	brain
37	chr4:166249600-166254000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:166249600-166254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
40	chr4:166249800-166251200	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:166249800-166251600	Enhancers	Primary T cells from cord blood	blood
42	chr4:166249800-166251600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:166249800-166251800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:166249800-166252200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:166249800-166255000	Weak transcription	Placenta	Placenta
46	chr4:166249800-166262400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:166249800-166262600	Weak transcription	Thymus	Thymus
48	chr4:166250000-166251000	Enhancers	Fetal Thymus	thymus
49	chr4:166250000-166251400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:166250000-166251400	Active TSS	NH-A	brain

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