Variant report

Variant	esv3446557
Chromosome Location	chr4:2962621-2962819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
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	ZNF274	chr4:2962176-2963300	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:2960088..2962960-chr4:3074155..3076323,2	MCF-7	breast:
2	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
3	chr4:2937577..2939558-chr4:2961657..2964358,2	MCF-7	breast:
4	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:
5	chr4:2961872..2963731-chr4:3064483..3066913,2	K562	blood:
6	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
7	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
8	chr4:2948388..2950164-chr4:2962609..2964597,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRK4	TF binding region
ENSG00000249673	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000109736	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55766937	chr4:2962626-2962627	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs55695620	chr4:2962634-2962635	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201291765	chr4:2962639-2962640	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs56227807	chr4:2962648-2962649	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs58492071	chr4:2962656-2962657	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556496370	chr4:2962672-2962673	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs58634172	chr4:2962678-2962679	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs56171014	chr4:2962688-2962689	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs56357041	chr4:2962691-2962692	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs538978500	chr4:2962708-2962709	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs13122667	chr4:2962710-2962711	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs62645796	chr4:2962713-2962714	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs13137379	chr4:2962717-2962718	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs13122833	chr4:2962725-2962726	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs13122839	chr4:2962732-2962733	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs13106119	chr4:2962738-2962739	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs554999229	chr4:2962741-2962742	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs13122846	chr4:2962747-2962748	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs62645802	chr4:2962751-2962752	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563357006	chr4:2962755-2962756	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs9992536	chr4:2962782-2962783	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs56154718	chr4:2962790-2962791	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs374106966	chr4:2962806-2962807	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs55841152	chr4:2962812-2962813	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs377544030	chr4:2962813-2962814	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs371013236	chr4:2962814-2962815	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs56163857	chr4:2962817-2962818	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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	21785460	CNVD
Breast cancer	22522925	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
2	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
3	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:2956000-2963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:2958200-2963200	Weak transcription	Stomach Mucosa	stomach
6	chr4:2958400-2963000	Strong transcription	K562	blood
7	chr4:2958400-2963200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:2958400-2963200	Weak transcription	Fetal Brain Male	brain
9	chr4:2958400-2963200	Weak transcription	Fetal Kidney	kidney
10	chr4:2958800-2963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:2958800-2963200	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:2959200-2963000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:2959200-2964400	Weak transcription	Aorta	Aorta
14	chr4:2959400-2963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:2959400-2963000	Weak transcription	Pancreas	Pancrea
16	chr4:2959400-2963000	Weak transcription	Small Intestine	intestine
17	chr4:2959400-2963200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:2959400-2963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:2959600-2963000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:2959600-2963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:2959600-2963200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:2959600-2963200	Weak transcription	Colonic Mucosa	Colon
23	chr4:2959800-2963000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:2959800-2963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:2959800-2963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:2959800-2963200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:2959800-2963200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:2959800-2963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:2960000-2963000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:2960000-2963200	Weak transcription	Brain Angular Gyrus	brain
31	chr4:2960000-2963200	Weak transcription	Esophagus	oesophagus
32	chr4:2960400-2963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:2960400-2963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:2960400-2963200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:2960600-2963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:2960600-2963000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:2960600-2963000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:2960600-2963000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:2960600-2963000	Weak transcription	Placenta	Placenta
40	chr4:2960600-2963000	Weak transcription	HepG2	liver
41	chr4:2960600-2963000	Weak transcription	HSMMtube	muscle
42	chr4:2960600-2963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:2960600-2963200	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:2960600-2963200	Weak transcription	Fetal Lung	lung
45	chr4:2960600-2963200	Weak transcription	Lung	lung
46	chr4:2960600-2963200	Weak transcription	Right Ventricle	heart
47	chr4:2960600-2963200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:2960600-2963200	Weak transcription	Spleen	Spleen
49	chr4:2960600-2963400	Weak transcription	Thymus	Thymus
50	chr4:2960600-2963600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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