Variant report

Variant	esv2751542
Chromosome Location	chr15:93053681-93091815
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93064480..93065790-chr15:93258050..93258792,4	MCF-7	breast:
2	chr15:93064485..93065451-chr15:93155056..93156204,3	MCF-7	breast:
3	chr15:93072512..93075082-chr15:93090546..93093036,2	K562	blood:
4	chr15:93070491..93072192-chr15:93080755..93082596,2	MCF-7	breast:
5	chr15:93063433..93065397-chr15:93114357..93116387,2	K562	blood:
6	chr15:93067708..93069820-chr15:93182760..93184278,2	MCF-7	breast:
7	chr15:93074509..93076549-chr15:93079796..93081314,2	K562	blood:
8	chr15:93064747..93065909-chr15:93226356..93227224,4	MCF-7	breast:
9	chr15:93070491..93072192-chr15:93080755..93082596,2	MCF-7	breast:
10	chr15:93064493..93065462-chr15:93226412..93227313,4	K562	blood:
11	chr15:93077134..93079709-chr15:93081881..93084212,2	MCF-7	breast:
12	chr15:93080164..93082598-chr15:93185700..93188569,2	MCF-7	breast:
13	chr15:93064524..93065412-chr15:93257719..93258254,3	K562	blood:
14	chr15:93070587..93073432-chr15:93083520..93085076,2	MCF-7	breast:
15	chr15:93077134..93079709-chr15:93081881..93084212,2	MCF-7	breast:
16	chr15:93064930..93065584-chr15:93138463..93139251,2	MCF-7	breast:
17	chr15:93072512..93075082-chr15:93090546..93093036,2	K562	blood:
18	chr15:93064927..93066555-chr15:93186642..93188513,2	MCF-7	breast:
19	chr15:93070587..93073432-chr15:93083520..93085076,2	MCF-7	breast:
20	chr15:93064521..93065401-chr15:93226401..93227344,5	MCF-7	breast:
21	chr15:93074509..93076549-chr15:93079796..93081314,2	K562	blood:
22	chr15:93065601..93066325-chr15:93226419..93227349,3	MCF-7	breast:
23	chr15:93063927..93066248-chr15:93198569..93200828,2	MCF-7	breast:
24	chr15:93064380..93064919-chr15:93138833..93139430,2	MCF-7	breast:
25	chr15:93062742..93066323-chr15:93179954..93182328,3	MCF-7	breast:
26	chr15:93064431..93065465-chr15:93257828..93258686,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258647	chromatin interactions
ENSG00000185442	chromatin interactions

Extended variants
information (count: 1785 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1785 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2124363	chr15:93053681-93053682	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150094462	chr15:93053682-93053683	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371821875	chr15:93053714-93053715	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567425541	chr15:93053729-93053730	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534939324	chr15:93053750-93053751	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138372570	chr15:93053759-93053760	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149650508	chr15:93053771-93053772	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567444145	chr15:93053772-93053773	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113532107	chr15:93053783-93053784	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76568683	chr15:93053803-93053804	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143390939	chr15:93053839-93053840	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150295586	chr15:93053870-93053871	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565739474	chr15:93053917-93053918	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569563285	chr15:93053918-93053919	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139297115	chr15:93053942-93053943	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191114839	chr15:93053947-93053948	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373588118	chr15:93054006-93054007	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569381103	chr15:93054012-93054013	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11858396	chr15:93054017-93054018	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557822752	chr15:93054049-93054050	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182142166	chr15:93054111-93054112	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575018797	chr15:93054128-93054129	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12595440	chr15:93054129-93054130	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs143219880	chr15:93054131-93054132	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111341963	chr15:93054133-93054134	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555950316	chr15:93054151-93054152	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374711147	chr15:93054160-93054161	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147500303	chr15:93054163-93054164	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564629129	chr15:93054171-93054172	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530564357	chr15:93054180-93054181	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186923799	chr15:93054192-93054193	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371974073	chr15:93054202-93054203	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534265188	chr15:93054237-93054238	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560973549	chr15:93054255-93054256	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529672723	chr15:93054277-93054278	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140002350	chr15:93054380-93054381	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566653673	chr15:93054381-93054382	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191703310	chr15:93054397-93054398	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545133897	chr15:93054432-93054433	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569354517	chr15:93054438-93054439	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113949142	chr15:93054445-93054446	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554783516	chr15:93054499-93054500	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568417024	chr15:93054526-93054527	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116277122	chr15:93054539-93054540	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554405358	chr15:93054562-93054563	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577159344	chr15:93054573-93054574	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34834427	chr15:93054575-93054576	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574218940	chr15:93054588-93054589	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545985913	chr15:93054617-93054618	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541722716	chr15:93054618-93054619	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93047800-93054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93049200-93055800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:93051200-93054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:93052800-93054400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:93052800-93054600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr15:93052800-93054800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:93053000-93053800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:93053000-93054400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr15:93053000-93054600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:93053200-93053800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:93053200-93054000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:93053200-93054200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:93053400-93053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:93053400-93054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:93053400-93054000	Enhancers	HMEC	breast
16	chr15:93053400-93054000	Enhancers	NHEK	skin
17	chr15:93053400-93054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:93053400-93054200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:93053400-93054200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:93053400-93054200	Enhancers	HSMM	muscle
21	chr15:93053400-93054200	Enhancers	NH-A	brain
22	chr15:93053400-93054400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:93053600-93053800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr15:93053600-93053800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:93053600-93054000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:93053600-93054000	Enhancers	HSMMtube	muscle
27	chr15:93053600-93054200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:93053800-93054000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr15:93053800-93054400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:93053800-93054400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:93053800-93054600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:93053800-93054800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr15:93054000-93054400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr15:93054000-93054400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr15:93054000-93055200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr15:93054200-93054400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:93054200-93054600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:93054400-93054800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:93054600-93056800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr15:93054800-93055200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:93054800-93061600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:93055800-93063800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:93056800-93058600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr15:93058600-93060600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:93059400-93059600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:93059600-93066400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:93060600-93063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:93061600-93063600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:93061800-93062200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:93061800-93063200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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