Variant report

Variant	esv3331807
Chromosome Location	chr15:74701299-74703447
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74694161..74696547-chr15:74701258..74703158,2	K562	blood:
2	chr15:74700131..74703007-chr15:74725422..74727638,2	MCF-7	breast:
3	chr15:74698938..74701316-chr15:74711313..74715118,3	MCF-7	breast:
4	chr15:74687537..74689333-chr15:74700401..74702548,2	MCF-7	breast:
5	chr15:74681656..74683846-chr15:74699710..74701534,2	K562	blood:
6	chr15:74698476..74700326-chr15:74700408..74702340,3	MCF-7	breast:
7	chr15:74699281..74701462-chr15:74703798..74706437,2	MCF-7	breast:
8	chr15:74698106..74700226-chr15:74701422..74703511,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138623	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567572024	chr15:74701347-74701348	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559063002	chr15:74701378-74701379	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577805958	chr15:74701393-74701394	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538430123	chr15:74701403-74701404	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28362929	chr15:74701412-74701413	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376503235	chr15:74701416-74701417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149867659	chr15:74701428-74701429	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368024866	chr15:74701429-74701430	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554145312	chr15:74701544-74701545	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546751860	chr15:74701580-74701581	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553205544	chr15:74701583-74701584	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544254120	chr15:74701625-74701626	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561780594	chr15:74701659-74701660	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372258025	chr15:74701660-74701661	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113822312	chr15:74701735-74701736	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564813297	chr15:74701752-74701753	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28362928	chr15:74701773-74701774	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541258076	chr15:74701805-74701806	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559859136	chr15:74701806-74701807	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530422916	chr15:74701841-74701842	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75319052	chr15:74701874-74701875	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185509908	chr15:74701938-74701939	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564154113	chr15:74701974-74701975	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552664912	chr15:74701981-74701982	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28362927	chr15:74702011-74702012	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538864830	chr15:74702017-74702018	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553693281	chr15:74702092-74702093	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs80061177	chr15:74702109-74702110	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565819246	chr15:74702247-74702248	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536162556	chr15:74702291-74702292	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554408785	chr15:74702329-74702330	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191398734	chr15:74702425-74702426	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543011537	chr15:74702452-74702453	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558660039	chr15:74702467-74702468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181428928	chr15:74702515-74702516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541076231	chr15:74702544-74702545	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559719917	chr15:74702594-74702595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186012518	chr15:74702595-74702596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141987722	chr15:74702602-74702603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563952048	chr15:74702610-74702611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530970736	chr15:74702625-74702626	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2075594	chr15:74702661-74702662	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs190889068	chr15:74702662-74702663	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528578759	chr15:74702688-74702689	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372573121	chr15:74702747-74702748	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547041824	chr15:74702748-74702749	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565553616	chr15:74702777-74702778	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2075593	chr15:74702778-74702779	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144289778	chr15:74702808-74702809	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569605224	chr15:74702886-74702887	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Intellectual disability	22102821	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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74689400-74702400	Weak transcription	Gastric	stomach
2	chr15:74693600-74701600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr15:74696200-74702600	Weak transcription	Lung	lung
4	chr15:74696200-74710400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:74696200-74711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:74696200-74712600	Weak transcription	Right Atrium	heart
7	chr15:74696400-74702400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:74696400-74707000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:74696400-74712200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:74696600-74703600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:74696600-74706200	Weak transcription	Primary T cells from cord blood	blood
12	chr15:74696800-74702600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:74696800-74709400	Weak transcription	Left Ventricle	heart
14	chr15:74697000-74702800	Weak transcription	Dnd41	blood
15	chr15:74697000-74705400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:74697000-74712400	Weak transcription	Fetal Heart	heart
17	chr15:74697000-74712600	Weak transcription	Fetal Lung	lung
18	chr15:74697200-74702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:74697200-74705200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:74697600-74701600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:74697800-74702000	Enhancers	NH-A	brain
22	chr15:74698000-74701600	Enhancers	Osteobl	bone
23	chr15:74698000-74701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:74698000-74702000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:74698000-74702600	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr15:74698200-74704400	Weak transcription	Primary B cells from cord blood	blood
27	chr15:74698400-74702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:74698600-74701400	Enhancers	HMEC	breast
29	chr15:74698800-74701400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:74698800-74701400	Genic enhancers	Placenta	Placenta
31	chr15:74698800-74701600	Enhancers	HSMMtube	muscle
32	chr15:74699000-74701400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:74699000-74701400	Enhancers	Brain Angular Gyrus	brain
34	chr15:74699000-74702400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:74699200-74701600	Enhancers	GM12878-XiMat	blood
36	chr15:74699600-74706200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
38	chr15:74699800-74701800	Enhancers	NHDF-Ad	bronchial
39	chr15:74699800-74702000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:74699800-74702400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:74699800-74702600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:74699800-74702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:74699800-74704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:74700000-74701400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:74700000-74701600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr15:74700000-74701800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:74700000-74702800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:74700000-74713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr15:74700200-74701600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:74700200-74701600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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