Variant report

Variant	esv3412214
Chromosome Location	chr17:67086932-67089005
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	BRCA1	chr17:67088556-67088568	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr17:67087000-67087150	AoAF	blood vessel:	n/a	n/a
3	EP300	chr17:67088355-67090318	K562	blood:	n/a	n/a
4	GATA1	chr17:67088580-67090002	PBDE	blood:	n/a	chr17:67089976-67089992 chr17:67088727-67088743 chr17:67089979-67089988 chr17:67089974-67089995
5	GATA1	chr17:67088574-67090430	K562	blood:	n/a	chr17:67089976-67089992 chr17:67088727-67088743 chr17:67089979-67089988 chr17:67089974-67089995
6	IRF1	chr17:67088988-67090274	K562	blood:	n/a	chr17:67089952-67089962 chr17:67089590-67089611
7	IRF1	chr17:67088929-67090061	K562	blood:	n/a	chr17:67089952-67089962 chr17:67089590-67089611
8	JUN	chr17:67088467-67088874	K562	blood:	n/a	n/a
9	KAP1	chr17:67088902-67089790	K562	blood:	n/a	n/a
10	KAP1	chr17:67088153-67088612	K562	blood:	n/a	n/a
11	KAP1	chr17:67086928-67087641	K562	blood:	n/a	n/a
12	MAX	chr17:67088664-67088685	GM12878	blood:	n/a	n/a
13	STAT3	chr17:67088488-67088655	MCF10A-Er-Src	breast:	n/a	n/a
14	TBL1XR1	chr17:67088779-67089887	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:67083309..67086941-chr17:67087664..67091050,5	K562	blood:
2	chr17:67043107..67046503-chr17:67087487..67090701,3	K562	blood:
3	chr17:67084611..67087550-chr17:67148578..67150089,2	K562	blood:
4	chr17:67085517..67087191-chr17:67098879..67100448,2	K562	blood:
5	chr17:67072787..67074719-chr17:67087399..67089601,2	K562	blood:
6	chr17:67087380..67090007-chr17:67103818..67105746,2	K562	blood:
7	chr17:67088137..67090811-chr17:67098460..67099975,2	K562	blood:
8	chr17:67088212..67090645-chr17:67172453..67175365,2	K562	blood:
9	chr17:67083309..67086380-chr17:67087124..67091050,4	K562	blood:
10	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:
11	chr17:67074921..67077077-chr17:67087340..67089647,2	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154258	chromatin interactions
ENSG00000265331	chromatin interactions
ENSG00000154262	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183265198	chr17:67086961-67086962	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187362843	chr17:67086964-67086965	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192267598	chr17:67086984-67086985	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574243674	chr17:67087124-67087125	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544970027	chr17:67087125-67087126	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563183288	chr17:67087130-67087131	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183937426	chr17:67087157-67087158	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551820689	chr17:67087161-67087162	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35641622	chr17:67087186-67087187	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560362355	chr17:67087220-67087221	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369241413	chr17:67087252-67087253	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201325173	chr17:67087254-67087255	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371849049	chr17:67087290-67087291	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201747493	chr17:67087292-67087293	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145482966	chr17:67087313-67087314	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565538031	chr17:67087335-67087336	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371995166	chr17:67087338-67087339	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34831728	chr17:67087356-67087357	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568291044	chr17:67087394-67087395	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200970149	chr17:67087412-67087413	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142470758	chr17:67087428-67087429	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369091271	chr17:67087436-67087437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568829315	chr17:67087448-67087449	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539021540	chr17:67087476-67087477	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557362822	chr17:67087482-67087483	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372172445	chr17:67087522-67087523	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs572835698	chr17:67087541-67087542	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188096679	chr17:67087566-67087567	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs192957836	chr17:67087583-67087584	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs184169455	chr17:67087584-67087585	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs200635001	chr17:67087667-67087668	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201283435	chr17:67087668-67087669	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs199646771	chr17:67087669-67087670	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200725401	chr17:67087670-67087671	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs201506186	chr17:67087672-67087673	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs199533206	chr17:67087674-67087675	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs574132819	chr17:67087687-67087688	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs544834218	chr17:67087688-67087689	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs563146569	chr17:67087888-67087889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189468363	chr17:67087899-67087900	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs545404656	chr17:67087905-67087906	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560572614	chr17:67087954-67087955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs527778626	chr17:67087959-67087960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs543059060	chr17:67087960-67087961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs561232980	chr17:67087961-67087962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs529022782	chr17:67087962-67087963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs550384852	chr17:67088026-67088027	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs568792447	chr17:67088034-67088035	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs139598853	chr17:67088099-67088100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533095364	chr17:67088108-67088109	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
2	chr17:67067200-67099600	Weak transcription	Gastric	stomach
3	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
5	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:67079400-67087400	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:67079400-67090600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:67079400-67093600	Weak transcription	Fetal Stomach	stomach
10	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
11	chr17:67079400-67112200	Strong transcription	Liver	Liver
12	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
14	chr17:67079600-67091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
17	chr17:67080800-67088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:67080800-67088600	Weak transcription	GM12878-XiMat	blood
19	chr17:67080800-67090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
21	chr17:67081200-67088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:67081200-67088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:67081200-67090800	Weak transcription	Fetal Muscle Leg	muscle
24	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:67081400-67089400	Weak transcription	Ovary	ovary
26	chr17:67081400-67090400	Weak transcription	Left Ventricle	heart
27	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
29	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:67083800-67090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:67084200-67089000	Weak transcription	Adipose Nuclei	Adipose
32	chr17:67085600-67088600	Weak transcription	Fetal Lung	lung
33	chr17:67085800-67099600	Weak transcription	Lung	lung
34	chr17:67086200-67087000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:67086400-67087400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:67086600-67087000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:67086600-67087000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:67086800-67087600	ZNF genes & repeats	K562	blood
39	chr17:67087000-67089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:67087400-67087600	Enhancers	Colon Smooth Muscle	Colon
43	chr17:67087400-67087800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr17:67087600-67087800	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:67087600-67088000	Weak transcription	K562	blood
46	chr17:67087600-67088200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr17:67087800-67089200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr17:67088000-67089000	Transcr. at gene 5' and 3'	K562	blood
49	chr17:67088000-67089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:67088200-67088400	Enhancers	Monocytes-CD14+_RO01746	blood

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