Variant report

Variant	esv3344431
Chromosome Location	chr4:940804-941060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr4:940794-941150	SK-N-MC	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:940893-940943	GM12878	blood:	n/a
2	chr4:941054-941104	K562	blood:	n/a
3	chr4:940893-940943	SK-N-SH_RA	brain:	n/a
4	chr4:941054-941104	HEEpiC	esophagus:	n/a
5	chr4:940893-940943	ProgFib	skin:	n/a
6	chr4:941054-941104	HCT-116	colon:	n/a
7	chr4:941054-941104	AG09319	gingival:	n/a
8	chr4:940893-940943	GM12892	blood:	n/a
9	chr4:940893-940943	HMEC	breast:	n/a
10	chr4:940893-940943	GM12891	blood:	n/a
11	chr4:940893-940943	ovcar-3	ovarian:	n/a
12	chr4:940893-940943	AoSMC	blood vessel:	n/a
13	chr4:941054-941104	GM19239	blood:	n/a
14	chr4:941054-941104	H1-hESC	embryonic stem cell:	embryo
15	chr4:941054-941104	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:941054-941104	ECC-1	luminal epithelium:	n/a
17	chr4:941054-941104	Caco-2	colon:	n/a
18	chr4:941054-941104	ovcar-3	ovarian:	n/a
19	chr4:941054-941104	NHBE	bronchial:	n/a
20	chr4:940893-940943	HNPCEpiC	eye:	n/a
21	chr4:940893-940943	SKMC	muscle:	n/a
22	chr4:940893-940943	HL-60	blood:	n/a
23	chr4:940893-940943	Caco-2	colon:	n/a
24	chr4:940893-940943	HUVEC	blood vessel:	n/a
25	chr4:941054-941104	SK-N-MC	brain:	n/a
26	chr4:941054-941104	T-47D	breast:	n/a
27	chr4:941054-941104	GM12878	blood:	n/a
28	chr4:941054-941104	LNCaP	prostate:	n/a
29	chr4:940893-940943	HCT-116	colon:	n/a
30	chr4:941054-941104	BE2_C	brain:	n/a
31	chr4:941054-941104	HUVEC	blood vessel:	n/a
32	chr4:941054-941104	NHDF-neo	bronchial:	n/a
33	chr4:940893-940943	U87	brain:	n/a
34	chr4:941054-941104	HRCEpiC	kidney:	n/a
35	chr4:941054-941104	AG04450	lung:	fetal
36	chr4:940893-940943	AG09309	skin:	n/a
37	chr4:941054-941104	HEK293	kidney:	embryo
38	chr4:941054-941104	HMEC	breast:	n/a
39	chr4:940893-940943	BJ	skin:	n/a
40	chr4:941054-941104	HAEpiC	amniotic membrane:	n/a
41	chr4:940893-940943	HEK293	kidney:	embryo
42	chr4:941054-941104	SKMC	muscle:	n/a
43	chr4:940893-940943	AG09319	gingival:	n/a
44	chr4:941054-941104	AG04449	skin:	fetal
45	chr4:941054-941104	HRPEpiC	eye:	n/a
46	chr4:941054-941104	HCF	heart:	n/a
47	chr4:940893-940943	BE2_C	brain:	n/a
48	chr4:941054-941104	A549	lung:	n/a
49	chr4:940893-940943	GM06990	blood:	n/a
50	chr4:940893-940943	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:939199..941933-chr4:945515..948491,3	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM175	TF binding region
TMEM175	CpG island
ENSG00000127419	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567369090	chr4:940819-940820	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534391230	chr4:940829-940830	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554347845	chr4:940834-940835	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6848199	chr4:940838-940839	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs539791183	chr4:940842-940843	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146487859	chr4:940845-940846	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558009240	chr4:940857-940858	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576064838	chr4:940864-940865	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35208825	chr4:940904-940905	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs181914613	chr4:940913-940914	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557470206	chr4:940923-940924	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140892583	chr4:940931-940932	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559536862	chr4:940946-940947	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533156215	chr4:940961-940962	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545347900	chr4:940964-940965	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563556896	chr4:940973-940974	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530789900	chr4:940984-940985	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186433499	chr4:940995-940996	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10008187	chr4:941017-941018	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs35499970	chr4:941029-941030	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528198767	chr4:941035-941036	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546374973	chr4:941049-941050	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565961233	chr4:941054-941055	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539631252	chr4:941056-941057	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191321784	chr4:941057-941058	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:927000-941000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:927000-941400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:927000-945200	Weak transcription	Colonic Mucosa	Colon
4	chr4:927000-946200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:927000-947000	Weak transcription	Aorta	Aorta
6	chr4:927000-948000	Weak transcription	Brain Substantia Nigra	brain
7	chr4:927000-951600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:927000-965800	Weak transcription	HSMMtube	muscle
9	chr4:927200-946400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:927200-948600	Weak transcription	Brain Angular Gyrus	brain
11	chr4:927200-952200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:927400-945000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:927600-944200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:927600-944400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:927600-945200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:927600-955000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:927800-945200	Weak transcription	Liver	Liver
18	chr4:927800-947200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:928000-944600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:928000-945000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:928000-945800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:928000-946800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:928000-947000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:928000-951000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:928200-945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:928400-945400	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:928400-945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:928400-946800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:929000-941000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:930000-947400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:932000-952400	Weak transcription	Primary B cells from cord blood	blood
32	chr4:933800-965600	Weak transcription	HSMM	muscle
33	chr4:937800-942400	Weak transcription	Thymus	Thymus
34	chr4:937800-945200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:938600-942800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:939400-960800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:939600-947000	Weak transcription	Fetal Thymus	thymus
38	chr4:939600-953600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:939800-945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:939800-946400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:939800-955600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:939800-958400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:940000-941000	Weak transcription	Pancreas	Pancrea
44	chr4:940000-941600	Weak transcription	HepG2	liver
45	chr4:940000-945200	Weak transcription	Lung	lung
46	chr4:940000-945400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:940000-947800	Weak transcription	Fetal Lung	lung
48	chr4:940000-950600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:940000-956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:940000-957200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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