Variant report

Variant	esv3486101
Chromosome Location	chr6:38696191-38701061
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	BACH1	chr6:38696099-38696299	K562	blood:	n/a	n/a
2	CTCF	chr6:38697980-38698130	SK-N-SH_RA	brain:	n/a	chr6:38697987-38698000
3	CTCF	chr6:38698140-38698290	GM12866	blood:	n/a	n/a
4	CTCF	chr6:38697960-38698110	BE2_C	brain:	n/a	chr6:38697987-38698000
5	CTCF	chr6:38696823-38696873	LNCaP	prostate:	n/a	n/a
6	CTCF	chr6:38696520-38696670	GM12869	blood:	n/a	n/a
7	E2F4	chr6:38698383-38698479	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:38699393-38699395	GM12878	blood:	n/a	n/a
9	EP300	chr6:38697596-38699623	SK-N-SH	brain:	n/a	chr6:38698620-38698634 chr6:38697653-38697667
10	EP300	chr6:38697859-38698764	SK-N-SH_RA	brain:	n/a	chr6:38698620-38698634
11	EP300	chr6:38697916-38698684	SK-N-SH_RA	brain:	n/a	chr6:38698620-38698634
12	GATA2	chr6:38697876-38698963	SH-SY5Y	brain:	n/a	chr6:38698931-38698944 chr6:38698766-38698774
13	GATA3	chr6:38697904-38698770	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr6:38697428-38697640	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr6:38697854-38698972	SH-SY5Y	brain:	n/a	chr6:38698931-38698944 chr6:38698766-38698774
16	GATA3	chr6:38697855-38698768	SK-N-SH	brain:	n/a	n/a
17	MAFF	chr6:38696082-38696279	HepG2	liver:	n/a	n/a
18	MAFF	chr6:38696090-38696320	K562	blood:	n/a	n/a
19	MAFK	chr6:38696061-38696308	HepG2	liver:	n/a	n/a
20	MAFK	chr6:38696041-38696316	HepG2	liver:	n/a	n/a
21	MAFK	chr6:38696143-38696201	K562	blood:	n/a	n/a
22	MAZ	chr6:38700032-38700145	K562	blood:	n/a	n/a
23	POLR2A	chr6:38697940-38698034	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:38697889-38698271	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr6:38700802-38700803	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr6:38697858-38698156	SK-N-SH_RA	brain:	n/a	chr6:38697983-38698002 chr6:38697986-38697999 chr6:38698091-38698104
27	RAD21	chr6:38697896-38698206	SK-N-SH_RA	brain:	n/a	chr6:38697983-38698002 chr6:38697986-38697999 chr6:38698091-38698104
28	REST	chr6:38697949-38698588	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr6:38697834-38698799	SK-N-SH	brain:	n/a	n/a
30	TCF12	chr6:38697871-38698716	SK-N-SH	brain:	n/a	n/a
31	YY1	chr6:38697839-38698260	SK-N-SH_RA	brain:	n/a	chr6:38698052-38698060
32	YY1	chr6:38697915-38698223	SK-N-SH_RA	brain:	n/a	chr6:38698052-38698060

No.	Distal block	Cell Line	Cell type
1	chr6:38695932..38697674-chr6:38699829..38702820,2	MCF-7	breast:
2	chr6:38693614..38696826-chr6:38697789..38701720,5	K562	blood:
3	chr6:38693614..38696826-chr6:38697789..38701720,5	K562	blood:
4	chr6:38697816..38698558-chr6:38712714..38713251,2	MCF-7	breast:

Variant related genes	Relation type
DNAH8	TF binding region
ENSG00000124721	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568098006	chr6:38696311-38696312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530836336	chr6:38696366-38696367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551048622	chr6:38696398-38696399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116731059	chr6:38696463-38696464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577990306	chr6:38696483-38696484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34128177	chr6:38696535-38696536	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs558789757	chr6:38696570-38696571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1698999	chr6:38696590-38696591	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191652008	chr6:38696641-38696642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1698998	chr6:38696668-38696669	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs11755881	chr6:38696691-38696692	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112063988	chr6:38696706-38696707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562173807	chr6:38696731-38696732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557010386	chr6:38696732-38696733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576867306	chr6:38696751-38696752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144104776	chr6:38696757-38696758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559537110	chr6:38696785-38696786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573135315	chr6:38696793-38696794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147243024	chr6:38696799-38696800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562288705	chr6:38696800-38696801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184122158	chr6:38696840-38696841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550705842	chr6:38696841-38696842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564560284	chr6:38696880-38696881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533489026	chr6:38696901-38696902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188074616	chr6:38696910-38696911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565868413	chr6:38696913-38696914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534843022	chr6:38696927-38696928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548500297	chr6:38696935-38696936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568306060	chr6:38696949-38696950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537010929	chr6:38696974-38696975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139622622	chr6:38696979-38696980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376184381	chr6:38696980-38696981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556704124	chr6:38696986-38696987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576836335	chr6:38697016-38697017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192220326	chr6:38697017-38697018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73416374	chr6:38697076-38697077	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573096942	chr6:38697078-38697079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554536223	chr6:38697102-38697103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74697933	chr6:38697117-38697118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76852360	chr6:38697229-38697230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6458067	chr6:38697254-38697255	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184504460	chr6:38697256-38697257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150860729	chr6:38697278-38697279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533403236	chr6:38697323-38697324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547093640	chr6:38697366-38697367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1698997	chr6:38697386-38697387	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374736087	chr6:38697422-38697423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368188186	chr6:38697428-38697429	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371484523	chr6:38697429-38697430	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374155192	chr6:38697447-38697448	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38698000-38698600	Enhancers	Colon Smooth Muscle	Colon
2	chr6:38698000-38698800	Enhancers	Fetal Stomach	stomach
3	chr6:38698200-38698400	Enhancers	Fetal Brain Male	brain
4	chr6:38698200-38698600	Enhancers	Brain Substantia Nigra	brain
5	chr6:38698200-38698800	Enhancers	Brain Hippocampus Middle	brain
6	chr6:38698200-38698800	Enhancers	Fetal Lung	lung
7	chr6:38698200-38698800	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:38698400-38698800	Active TSS	Fetal Brain Male	brain
9	chr6:38700000-38700400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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