Variant report

Variant	esv33710
Chromosome Location	chr10:38545898-38671289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:677)
CpG islands
(count:674)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:38643716-38643738	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:38644906-38645102	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:38654986-38655177	HepG2	liver:	n/a	n/a
4	ATF1	chr10:38645160-38645358	K562	blood:	n/a	n/a
5	BATF	chr10:38645041-38645429	GM12878	blood:	n/a	n/a
6	BATF	chr10:38645464-38645676	GM12878	blood:	n/a	n/a
7	BATF	chr10:38653073-38653315	GM12878	blood:	n/a	n/a
8	BATF	chr10:38645106-38645393	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:38645040-38645274	GM12878	blood:	n/a	chr10:38645166-38645175
10	BCL11A	chr10:38644092-38644265	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:38631238-38631413	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:38631212-38631449	GM12878	blood:	n/a	n/a
13	BHLHE40	chr10:38645217-38645356	GM12878	blood:	n/a	n/a
14	BRCA1	chr10:38645342-38645347	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr10:38645112-38645474	K562	blood:	n/a	n/a
16	CEBPB	chr10:38645147-38645369	K562	blood:	n/a	n/a
17	CEBPB	chr10:38645157-38645351	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr10:38645028-38645439	K562	blood:	n/a	n/a
19	CEBPB	chr10:38645148-38645371	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr10:38644972-38645432	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:38645066-38645520	HepG2	liver:	n/a	n/a
22	CEBPB	chr10:38645092-38645440	K562	blood:	n/a	n/a
23	CEBPB	chr10:38649455-38649651	HepG2	liver:	n/a	chr10:38649469-38649486
24	CEBPB	chr10:38645149-38645374	A549	lung:	n/a	n/a
25	CEBPB	chr10:38645267-38645397	HepG2	liver:	n/a	n/a
26	CEBPB	chr10:38645146-38645459	IMR90	lung:	n/a	n/a
27	CEBPB	chr10:38649444-38649591	A549	lung:	n/a	chr10:38649469-38649486
28	CEBPB	chr10:38605903-38606082	A549	lung:	n/a	chr10:38605986-38605999 chr10:38605986-38605997
29	CEBPB	chr10:38641217-38641248	HepG2	liver:	n/a	n/a
30	CEBPD	chr10:38644884-38645186	HepG2	liver:	n/a	n/a
31	CEBPD	chr10:38645037-38645505	K562	blood:	n/a	n/a
32	CEBPD	chr10:38645231-38645430	HepG2	liver:	n/a	n/a
33	CHD2	chr10:38644963-38644984	GM12878	blood:	n/a	n/a
34	CHD2	chr10:38645158-38645365	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr10:38645061-38645480	A549	lung:	n/a	n/a
36	CTCF	chr10:38654980-38655130	GM12878	blood:	n/a	n/a
37	CTCF	chr10:38654680-38654830	RPTEC	kidney:	n/a	n/a
38	CTCF	chr10:38654960-38655110	GM12870	blood:	n/a	n/a
39	CTCF	chr10:38654965-38655094	GM20000	blood:	n/a	n/a
40	CTCF	chr10:38654940-38655090	K562	blood:	n/a	n/a
41	CTCF	chr10:38654969-38655046	GM12892	blood:	n/a	n/a
42	CTCF	chr10:38654980-38655130	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr10:38583648-38583696	LNCaP	prostate:	n/a	n/a
44	CTCF	chr10:38573877-38573966	LNCaP	prostate:	n/a	n/a
45	CTCF	chr10:38623440-38623537	Lung_OC	lung:	n/a	n/a
46	CTCF	chr10:38550465-38550501	ProgFib	skin:	n/a	n/a
47	CTCF	chr10:38654932-38655147	ProgFib	skin:	n/a	n/a
48	CTCF	chr10:38654856-38655125	A549	lung:	n/a	n/a
49	CTCF	chr10:38569360-38569510	HepG2	liver:	n/a	n/a
50	CTCF	chr10:38654980-38655130	HAc	cerebellar:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38644675-38644725	HEEpiC	esophagus:	n/a
2	chr10:38645450-38645500	HRCEpiC	kidney:	n/a
3	chr10:38644991-38645041	AG09319	gingival:	n/a
4	chr10:38644675-38644725	HEEpiC	esophagus:	n/a
5	chr10:38645450-38645500	HRCEpiC	kidney:	n/a
6	chr10:38644991-38645041	AG09319	gingival:	n/a
7	chr10:38645113-38645163	CMK	blood:	n/a
8	chr10:38645450-38645500	BJ	skin:	n/a
9	chr10:38648189-38648239	SK-N-MC	brain:	n/a
10	chr10:38645121-38645171	Caco-2	colon:	n/a
11	chr10:38645450-38645500	AG10803	skin:	n/a
12	chr10:38645113-38645163	HL-60	blood:	n/a
13	chr10:38645740-38645790	HEEpiC	esophagus:	n/a
14	chr10:38645376-38645426	HRCEpiC	kidney:	n/a
15	chr10:38645450-38645500	RPTEC	kidney:	n/a
16	chr10:38648189-38648239	HCT-116	colon:	n/a
17	chr10:38645378-38645428	PFSK-1	brain:	n/a
18	chr10:38645113-38645163	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:38644675-38644725	HNPCEpiC	eye:	n/a
20	chr10:38645450-38645500	HCM	heart:	n/a
21	chr10:38645346-38645396	SK-N-SH_RA	brain:	n/a
22	chr10:38645378-38645428	HNPCEpiC	eye:	n/a
23	chr10:38645113-38645163	AoSMC	blood vessel:	n/a
24	chr10:38637466-38637516	GM12892	blood:	n/a
25	chr10:38645376-38645426	NH-A	brain:	n/a
26	chr10:38645450-38645500	PANC-1	pancreas:	n/a
27	chr10:38645346-38645396	PFSK-1	brain:	n/a
28	chr10:38648189-38648239	HCM	heart:	n/a
29	chr10:38644675-38644725	ovcar-3	ovarian:	n/a
30	chr10:38645121-38645171	Jurkat	blood:	n/a
31	chr10:38645376-38645426	ovcar-3	ovarian:	n/a
32	chr10:38645740-38645790	NHDF-neo	bronchial:	n/a
33	chr10:38645113-38645163	Jurkat	blood:	n/a
34	chr10:38644991-38645041	PFSK-1	brain:	n/a
35	chr10:38645376-38645426	SK-N-MC	brain:	n/a
36	chr10:38644991-38645041	LNCaP	prostate:	n/a
37	chr10:38644675-38644725	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:38645740-38645790	Hela-S3	cervix:	n/a
39	chr10:38645113-38645163	ECC-1	luminal epithelium:	n/a
40	chr10:38645740-38645790	HAEpiC	amniotic membrane:	n/a
41	chr10:38644991-38645041	K562	blood:	n/a
42	chr10:38645376-38645426	AG04450	lung:	fetal
43	chr10:38645378-38645428	NH-A	brain:	n/a
44	chr10:38645378-38645428	PANC-1	pancreas:	n/a
45	chr10:38648189-38648239	GM19239	blood:	n/a
46	chr10:38645346-38645396	HMEC	breast:	n/a
47	chr10:38637466-38637516	K562	blood:	n/a
48	chr10:38645450-38645500	HCT-116	colon:	n/a
49	chr10:38648189-38648239	PANC-1	pancreas:	n/a
50	chr10:38637466-38637516	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:38639339..38641981-chr10:38644795..38646926,2	MCF-7	breast:
2	chr10:38581321..38584038-chr20:23412027..23414957,2	K562	blood:
3	chr1:162751158..162754154-chr10:38636393..38637982,2	MCF-7	breast:

No data

Variant related genes	Relation type
HSD17B7P2	TF binding region
HSD17B7P2	CpG island
ENSG00000099251	chromatin interactions

Extended variants
information (count: 1464 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529708224	chr10:38565218-38565219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113703587	chr10:38565224-38565225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372320640	chr10:38565231-38565232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563250467	chr10:38565250-38565251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532316915	chr10:38565291-38565292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552485470	chr10:38565296-38565297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11011526	chr10:38565298-38565299	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs528323500	chr10:38565313-38565314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548391229	chr10:38565318-38565319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11011527	chr10:38565327-38565328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567782033	chr10:38565331-38565332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536696676	chr10:38565342-38565343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76501761	chr10:38565349-38565350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549915769	chr10:38565360-38565361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570072669	chr10:38565378-38565379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75900002	chr10:38565387-38565388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2996611	chr10:38565399-38565400	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs538650585	chr10:38565412-38565413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77713979	chr10:38565430-38565431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75533808	chr10:38565431-38565432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142457241	chr10:38565451-38565452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534901990	chr10:38565454-38565455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554717365	chr10:38565478-38565479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574200705	chr10:38565489-38565490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543465626	chr10:38565497-38565498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377136372	chr10:38565498-38565499	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73239062	chr10:38565522-38565523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545461950	chr10:38565526-38565527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs67894111	chr10:38565538-38565539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559721046	chr10:38565540-38565541	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78102199	chr10:38565552-38565553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548405707	chr10:38565556-38565557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561822901	chr10:38565559-38565560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530607299	chr10:38565562-38565563	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11011528	chr10:38565573-38565574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74801619	chr10:38565582-38565583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550296346	chr10:38565585-38565586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74673109	chr10:38565605-38565606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs80208976	chr10:38565606-38565607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117533842	chr10:38565625-38565626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566055643	chr10:38565659-38565660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2983342	chr10:38565664-38565665	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs71187811	chr10:38565680-38565681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376551658	chr10:38565700-38565701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554752402	chr10:38565764-38565765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs3866513	chr10:38565776-38565777	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs574733193	chr10:38565777-38565778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537247940	chr10:38565790-38565791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186020088	chr10:38568617-38568618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564651704	chr10:38568624-38568625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38565200-38565800	Active TSS	Fetal Heart	heart
2	chr10:38568600-38569400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr10:38569000-38569400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr10:38569200-38569600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:38622800-38623200	Enhancers	HepG2	liver
6	chr10:38635800-38636000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:38635800-38636200	Enhancers	HepG2	liver
8	chr10:38636000-38639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:38636200-38640800	Weak transcription	HepG2	liver
10	chr10:38640800-38641800	Enhancers	HepG2	liver
11	chr10:38641800-38642800	Weak transcription	HepG2	liver
12	chr10:38642800-38643200	Enhancers	HepG2	liver
13	chr10:38642800-38644800	Weak transcription	Pancreas	Pancrea
14	chr10:38643200-38643600	Flanking Active TSS	HepG2	liver
15	chr10:38643600-38647000	Active TSS	HepG2	liver
16	chr10:38644400-38644600	Enhancers	Primary B cells from cord blood	blood
17	chr10:38644400-38644600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr10:38644400-38644600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:38644400-38644600	Enhancers	Fetal Intestine Small	intestine
20	chr10:38644400-38644600	Enhancers	Stomach Smooth Muscle	stomach
21	chr10:38644400-38644600	Enhancers	Dnd41	blood
22	chr10:38644600-38644800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:38644600-38644800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr10:38644600-38644800	Enhancers	Primary B cells from peripheral blood	blood
25	chr10:38644600-38644800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr10:38644600-38644800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:38644600-38644800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:38644600-38644800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:38644600-38644800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:38644600-38644800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr10:38644600-38644800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:38644600-38644800	Enhancers	Brain Angular Gyrus	brain
33	chr10:38644600-38644800	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:38644600-38644800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:38644600-38644800	Enhancers	Fetal Muscle Leg	muscle
36	chr10:38644600-38644800	Enhancers	Fetal Stomach	stomach
37	chr10:38644600-38644800	Enhancers	Fetal Thymus	thymus
38	chr10:38644600-38644800	Enhancers	HMEC	breast
39	chr10:38644600-38644800	Active TSS	HUVEC	blood vessel
40	chr10:38644600-38644800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:38644600-38645000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr10:38644600-38645000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr10:38644600-38645000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:38644600-38645000	Enhancers	Fetal Brain Male	brain
45	chr10:38644600-38645000	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr10:38644600-38645000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr10:38644600-38645000	Flanking Active TSS	Dnd41	blood
48	chr10:38644600-38645600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:38644600-38645800	Active TSS	Colon Smooth Muscle	Colon
50	chr10:38644600-38646000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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