Variant report

Variant	esv3356785
Chromosome Location	chr4:7738702-7741200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7738338..7740956-chr4:7755052..7757253,2	K562	blood:
2	chr4:7739904..7741898-chr4:7754670..7757440,2	K562	blood:

Variant related genes	Relation type
ENSG00000272620	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541058812	chr4:7738727-7738728	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6840685	chr4:7738730-7738731	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373064090	chr4:7738750-7738751	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114752821	chr4:7738752-7738753	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112787266	chr4:7738774-7738775	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75849760	chr4:7738775-7738776	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556110209	chr4:7738800-7738801	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577610428	chr4:7738801-7738802	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373567367	chr4:7738835-7738836	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545276852	chr4:7738856-7738857	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377559686	chr4:7738889-7738890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150313747	chr4:7738890-7738891	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs137940442	chr4:7738932-7738933	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185040657	chr4:7738947-7738948	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35522801	chr4:7738951-7738952	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368832298	chr4:7738971-7738972	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535702425	chr4:7738975-7738976	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369329262	chr4:7738994-7738995	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190779749	chr4:7739036-7739037	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565280689	chr4:7739041-7739042	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532442854	chr4:7739053-7739054	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542369559	chr4:7739059-7739060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142299725	chr4:7739102-7739103	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144629806	chr4:7739109-7739110	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138753189	chr4:7739124-7739125	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552892872	chr4:7739130-7739131	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149333149	chr4:7739131-7739132	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537941746	chr4:7739139-7739140	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556024944	chr4:7739157-7739158	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577674225	chr4:7739162-7739163	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538207194	chr4:7739168-7739169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181866991	chr4:7739184-7739185	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74530862	chr4:7739196-7739197	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs55691120	chr4:7739197-7739198	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144536370	chr4:7739207-7739208	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554320871	chr4:7739220-7739221	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576205877	chr4:7739222-7739223	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148448218	chr4:7739223-7739224	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141743648	chr4:7739227-7739228	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374226484	chr4:7739232-7739233	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116185470	chr4:7739233-7739234	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541411945	chr4:7739245-7739246	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371559149	chr4:7739263-7739264	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559803597	chr4:7739269-7739270	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78743433	chr4:7739291-7739292	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548929478	chr4:7739308-7739309	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570219765	chr4:7739323-7739324	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188260824	chr4:7739372-7739373	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541709931	chr4:7739391-7739392	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73080574	chr4:7739413-7739414	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7717800-7739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:7722600-7739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:7724800-7744600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7726600-7757200	Weak transcription	Fetal Brain Female	brain
5	chr4:7727000-7739400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:7730600-7739000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:7731400-7739800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:7732800-7739000	Weak transcription	Ovary	ovary
9	chr4:7732800-7739200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:7734200-7739200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:7735400-7740200	ZNF genes & repeats	Fetal Stomach	stomach
12	chr4:7735600-7739000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:7736200-7739200	Strong transcription	Brain Cingulate Gyrus	brain
14	chr4:7736800-7739400	Weak transcription	Brain Substantia Nigra	brain
15	chr4:7737800-7739200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:7738000-7739600	Weak transcription	Aorta	Aorta
17	chr4:7738400-7738800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7738600-7739600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:7738800-7739200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7739000-7739400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr4:7739000-7740600	Strong transcription	Brain Angular Gyrus	brain
22	chr4:7739000-7742000	Strong transcription	Ovary	ovary
23	chr4:7739200-7739600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
24	chr4:7739200-7739800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7739200-7739800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr4:7739200-7739800	Strong transcription	Brain Anterior Caudate	brain
27	chr4:7739200-7739800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:7739200-7739800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr4:7739200-7740000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:7739200-7740400	Strong transcription	Brain Hippocampus Middle	brain
31	chr4:7739400-7739800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr4:7739400-7739800	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr4:7739400-7740400	Strong transcription	Brain Substantia Nigra	brain
34	chr4:7739400-7740400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr4:7739400-7740600	ZNF genes & repeats	Pancreas	Pancrea
36	chr4:7739600-7740000	Strong transcription	Fetal Intestine Small	intestine
37	chr4:7739600-7740200	ZNF genes & repeats	Aorta	Aorta
38	chr4:7739600-7741400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr4:7739800-7740000	Bivalent Enhancer	Placenta	Placenta
40	chr4:7739800-7740200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:7739800-7740400	ZNF genes & repeats	Esophagus	oesophagus
42	chr4:7739800-7740800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr4:7739800-7741400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:7739800-7741400	Strong transcription	Brain Germinal Matrix	brain
45	chr4:7739800-7741400	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:7739800-7742800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:7739800-7745000	Weak transcription	Brain Anterior Caudate	brain
48	chr4:7739800-7745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:7740000-7740200	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr4:7740000-7740400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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