Variant report

Variant	nsv428145
Chromosome Location	chr6:39404129-39460795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:39412379-39412639	GM12878	blood:	n/a	chr6:39412520-39412529
2	BCL11A	chr6:39412346-39412677	GM12878	blood:	n/a	n/a
3	BCL3	chr6:39420176-39420435	GM12878	blood:	n/a	chr6:39420374-39420383 chr6:39420341-39420350 chr6:39420342-39420351
4	BHLHE40	chr6:39440133-39440530	GM12878	blood:	n/a	n/a
5	CEBPB	chr6:39421842-39422051	A549	lung:	n/a	chr6:39421928-39421939
6	CEBPB	chr6:39416845-39417101	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:39421803-39422100	HepG2	liver:	n/a	chr6:39421928-39421939
8	CEBPB	chr6:39457899-39458256	HepG2	liver:	n/a	chr6:39458078-39458091 chr6:39458079-39458090 chr6:39458078-39458089
9	CEBPB	chr6:39457960-39458224	IMR90	lung:	n/a	chr6:39458078-39458091 chr6:39458079-39458090 chr6:39458078-39458089
10	CEBPB	chr6:39421891-39421993	K562	blood:	n/a	chr6:39421928-39421939
11	CEBPB	chr6:39457965-39458274	MCF-7	breast:	n/a	chr6:39458078-39458091 chr6:39458079-39458090 chr6:39458078-39458089
12	CEBPB	chr6:39458017-39458232	K562	blood:	n/a	chr6:39458078-39458091 chr6:39458079-39458090 chr6:39458078-39458089
13	CEBPB	chr6:39416936-39417129	IMR90	lung:	n/a	n/a
14	CEBPB	chr6:39442388-39442666	HepG2	liver:	n/a	chr6:39442508-39442520
15	CEBPB	chr6:39457926-39458191	A549	lung:	n/a	chr6:39458078-39458091 chr6:39458079-39458090 chr6:39458078-39458089
16	CTCF	chr6:39419720-39419870	AG10803	skin:	n/a	n/a
17	CTCF	chr6:39419720-39419870	HCM	heart:	n/a	n/a
18	CTCF	chr6:39419780-39419930	GM06990	blood:	n/a	n/a
19	CTCF	chr6:39419720-39419870	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr6:39419360-39419510	NB4	blood:	n/a	n/a
21	CTCF	chr6:39419700-39419850	AG04449	skin:	n/a	n/a
22	CTCF	chr6:39419657-39419943	GM12878	blood:	n/a	n/a
23	CTCF	chr6:39419720-39419870	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr6:39419720-39419870	HRE	kidney:	n/a	n/a
25	CTCF	chr6:39419680-39419830	GM12871	blood:	n/a	n/a
26	CTCF	chr6:39419710-39419863	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:39419631-39420007	K562	blood:	n/a	n/a
28	CTCF	chr6:39419520-39419670	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr6:39419731-39419863	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr6:39420100-39420250	GM12864	blood:	n/a	n/a
31	CTCF	chr6:39419720-39419870	HepG2	liver:	n/a	n/a
32	CTCF	chr6:39419731-39419873	GM13976	blood:	n/a	n/a
33	CTCF	chr6:39419820-39419970	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:39419780-39419930	RPTEC	kidney:	n/a	n/a
35	CTCF	chr6:39419629-39419897	K562	blood:	n/a	n/a
36	CTCF	chr6:39419740-39419890	HVMF	connective:	n/a	n/a
37	CTCF	chr6:39419695-39419892	GM10266	blood:	n/a	n/a
38	CTCF	chr6:39419689-39419894	GM19238	blood:	n/a	n/a
39	CTCF	chr6:39419780-39419930	SAEC	small airway:	n/a	n/a
40	CTCF	chr6:39419740-39419890	GM12868	blood:	n/a	n/a
41	CTCF	chr6:39419740-39419890	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr6:39419740-39419890	GM12870	blood:	n/a	n/a
43	CTCF	chr6:39419720-39419870	GM12875	blood:	n/a	n/a
44	CTCF	chr6:39419780-39419930	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr6:39419740-39419890	GM12867	blood:	n/a	n/a
46	CTCF	chr6:39419740-39419890	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr6:39419720-39419970	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr6:39419780-39419930	HFF	foreskin:	n/a	n/a
49	CTCF	chr6:39419693-39419899	GM13977	blood:	n/a	n/a
50	CTCF	chr6:39419700-39419850	AoAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:39410899..39413477-chr6:39419818..39422781,2	MCF-7	breast:
2	chr6:39408141..39410215-chr6:39548515..39550672,2	K562	blood:
3	chr6:39442069..39445021-chr6:39449754..39451323,2	K562	blood:
4	chr6:39451685..39454095-chr6:39459914..39462722,2	MCF-7	breast:
5	chr6:39410899..39413477-chr6:39419818..39422781,2	MCF-7	breast:
6	chr6:39442069..39445021-chr6:39449754..39451323,2	K562	blood:
7	chr6:39451685..39454095-chr6:39459914..39462722,2	MCF-7	breast:
8	chr6:39449098..39452096-chr6:39454798..39457343,2	K562	blood:
9	chr6:39449098..39452096-chr6:39454798..39457343,2	K562	blood:

Variant related genes	Relation type
KIF6	TF binding region

Extended variants
information (count: 1134 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147843062	chr6:39404154-39404155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9380862	chr6:39404162-39404163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539201692	chr6:39404187-39404188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76223306	chr6:39404225-39404226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374083253	chr6:39404240-39404241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9462546	chr6:39404297-39404298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9471104	chr6:39404332-39404333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574217761	chr6:39404377-39404378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543007051	chr6:39404482-39404483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562889875	chr6:39404512-39404513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2395727	chr6:39404514-39404515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544171467	chr6:39404534-39404535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566348043	chr6:39404580-39404581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141143716	chr6:39404609-39404610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536964465	chr6:39404645-39404646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370528430	chr6:39404750-39404751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147589755	chr6:39404754-39404755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535071217	chr6:39404807-39404808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200102165	chr6:39404808-39404809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576709777	chr6:39404809-39404810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201079111	chr6:39404810-39404811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559782580	chr6:39404818-39404819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528978398	chr6:39404837-39404838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563412351	chr6:39404841-39404842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370118238	chr6:39404925-39404926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35553201	chr6:39404949-39404950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4464790	chr6:39404950-39404951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537886784	chr6:39404966-39404967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59127443	chr6:39405082-39405083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571935821	chr6:39405132-39405133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186383964	chr6:39405158-39405159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557702565	chr6:39405208-39405209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372341001	chr6:39405219-39405220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554420032	chr6:39405232-39405233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1410488	chr6:39405237-39405238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149072325	chr6:39405258-39405259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370982314	chr6:39405265-39405266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143075157	chr6:39405272-39405273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148360542	chr6:39405273-39405274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545415496	chr6:39405301-39405302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150338364	chr6:39405331-39405332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375670883	chr6:39405362-39405363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191145545	chr6:39405368-39405369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577885566	chr6:39405452-39405453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140540661	chr6:39405491-39405492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183028399	chr6:39405501-39405502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187134739	chr6:39405502-39405503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191618907	chr6:39405515-39405516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74376680	chr6:39405543-39405544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115071305	chr6:39405569-39405570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39400400-39409200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:39401600-39404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:39407600-39408200	Enhancers	HUVEC	blood vessel
4	chr6:39407800-39408600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:39408000-39408400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:39409200-39410000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:39412800-39413600	Enhancers	Fetal Stomach	stomach
8	chr6:39414800-39415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:39414800-39415200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:39414800-39415200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:39414800-39415200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:39414800-39415200	Enhancers	NHDF-Ad	bronchial
13	chr6:39415200-39417200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:39415200-39419200	Weak transcription	NHDF-Ad	bronchial
15	chr6:39415400-39417000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:39417000-39417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:39417200-39417400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:39417200-39417600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:39417400-39417600	Enhancers	NHEK	skin
20	chr6:39417600-39419400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:39417600-39419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:39418800-39421400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:39419200-39421400	Enhancers	NHDF-Ad	bronchial
24	chr6:39419200-39421800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:39419200-39421800	Enhancers	Fetal Stomach	stomach
26	chr6:39419400-39420200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:39419400-39420400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:39419400-39421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:39419400-39421600	Enhancers	NHEK	skin
30	chr6:39419400-39421800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:39419400-39421800	Enhancers	HMEC	breast
32	chr6:39419600-39421600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:39419800-39420000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:39419800-39420200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:39419800-39420400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:39419800-39420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:39420000-39420200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:39420000-39420600	Enhancers	HSMM	muscle
39	chr6:39420000-39421200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:39420000-39421200	Enhancers	NH-A	brain
41	chr6:39420000-39421800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:39420000-39422000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:39420200-39420800	Enhancers	Osteobl	bone
44	chr6:39420200-39421000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:39420200-39421000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:39420200-39421200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:39420200-39421200	Enhancers	Fetal Muscle Leg	muscle
48	chr6:39421000-39421200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:39422400-39422800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:39429800-39430000	Enhancers	Small Intestine	intestine

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