Variant report

Variant	esv3326736
Chromosome Location	chr4:3422704-3425502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:3422746-3422943	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:3423122-3423211	K562	blood:	n/a	n/a
3	CEBPB	chr4:3422748-3422907	A549	lung:	n/a	n/a
4	CEBPB	chr4:3422619-3422819	HepG2	liver:	n/a	n/a
5	CTCF	chr4:3423317-3423326	GM13976	blood:	n/a	n/a
6	CTCF	chr4:3423405-3423491	H1-hESC	embryonic stem cell:	n/a	n/a
7	HMGN3	chr4:3424006-3424021	K562	blood:	n/a	n/a
8	POLR2A	chr4:3424001-3424063	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:3423678-3423714	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr4:3423316-3423530	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3425381-3425431	Caco-2	colon:	n/a
2	chr4:3424692-3424742	GM12891	blood:	n/a
3	chr4:3425256-3425306	Hepatocyte	liver:	n/a
4	chr4:3424203-3424253	HUVEC	blood vessel:	n/a
5	chr4:3425381-3425431	T-47D	breast:	n/a
6	chr4:3425315-3425365	HMEC	breast:	n/a
7	chr4:3424692-3424742	U87	brain:	n/a
8	chr4:3425315-3425365	PrEC	prostate:	n/a
9	chr4:3424470-3424520	PrEC	prostate:	n/a
10	chr4:3425315-3425365	T-47D	breast:	n/a
11	chr4:3424470-3424520	HNPCEpiC	eye:	n/a
12	chr4:3425381-3425431	Jurkat	blood:	n/a
13	chr4:3425381-3425431	CMK	blood:	n/a
14	chr4:3424203-3424253	U87	brain:	n/a
15	chr4:3424203-3424253	GM12892	blood:	n/a
16	chr4:3425381-3425431	SAEC	small airway:	n/a
17	chr4:3424470-3424520	HCPEpiC	choroid plexus:	n/a
18	chr4:3424203-3424253	HEK293	kidney:	embryo
19	chr4:3425381-3425431	NT2-D1	testis:	n/a
20	chr4:3425381-3425431	NHDF-neo	bronchial:	n/a
21	chr4:3424692-3424742	HEEpiC	esophagus:	n/a
22	chr4:3425256-3425306	HRCEpiC	kidney:	n/a
23	chr4:3425381-3425431	BJ	skin:	n/a
24	chr4:3425381-3425431	GM19239	blood:	n/a
25	chr4:3425256-3425306	LNCaP	prostate:	n/a
26	chr4:3424692-3424742	PrEC	prostate:	n/a
27	chr4:3425256-3425306	MCF10A-Er-Src	breast:	n/a
28	chr4:3424470-3424520	GM19239	blood:	n/a
29	chr4:3425381-3425431	NB4	blood:	n/a
30	chr4:3425381-3425431	BE2_C	brain:	n/a
31	chr4:3425256-3425306	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:3425381-3425431	Hepatocyte	liver:	n/a
33	chr4:3424692-3424742	NH-A	brain:	n/a
34	chr4:3424692-3424742	Jurkat	blood:	n/a
35	chr4:3424692-3424742	NHBE	bronchial:	n/a
36	chr4:3424692-3424742	HEK293	kidney:	embryo
37	chr4:3424470-3424520	HRE	kidney:	n/a
38	chr4:3425315-3425365	HepG2	liver:	n/a
39	chr4:3425315-3425365	AoSMC	blood vessel:	n/a
40	chr4:3425381-3425431	NH-A	brain:	n/a
41	chr4:3424203-3424253	SK-N-SH_RA	brain:	n/a
42	chr4:3424692-3424742	HCM	heart:	n/a
43	chr4:3424470-3424520	CMK	blood:	n/a
44	chr4:3424470-3424520	SK-N-SH_RA	brain:	n/a
45	chr4:3425256-3425306	BE2_C	brain:	n/a
46	chr4:3425315-3425365	HEK293	kidney:	embryo
47	chr4:3425381-3425431	HCT-116	colon:	n/a
48	chr4:3424203-3424253	SK-N-SH	brain:	n/a
49	chr4:3425315-3425365	HCF	heart:	n/a
50	chr4:3424692-3424742	LNCaP	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3419493..3422453-chr4:3423042..3425871,3	K562	blood:
2	chr17:62399380..62400330-chr4:3422309..3422930,2	MCF-7	breast:
3	chr4:3422645..3425998-chr4:3426569..3431321,4	K562	blood:
4	chr4:3407565..3409961-chr4:3422127..3423905,2	K562	blood:

No data

Variant related genes	Relation type
RGS12	TF binding region
RGS12	CpG island
ENSG00000159788	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs549971097	chr4:3422705-3422706	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs5855784	chr4:3422723-3422724	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570184381	chr4:3422772-3422773	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192274313	chr4:3422777-3422778	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143873098	chr4:3422795-3422796	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76291352	chr4:3422804-3422805	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184230095	chr4:3422820-3422821	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146397839	chr4:3422822-3422823	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576800930	chr4:3422836-3422837	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539436655	chr4:3422876-3422877	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555813737	chr4:3422888-3422889	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575737052	chr4:3422905-3422906	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541979900	chr4:3422925-3422926	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561986073	chr4:3422951-3422952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537396620	chr4:3423097-3423098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369658970	chr4:3423124-3423125	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572696433	chr4:3423166-3423167	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187651546	chr4:3423168-3423169	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532950118	chr4:3423182-3423183	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544727472	chr4:3423220-3423221	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114993990	chr4:3423224-3423225	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550199944	chr4:3423250-3423251	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563376132	chr4:3423251-3423252	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549810572	chr4:3423316-3423317	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192228066	chr4:3423345-3423346	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548399497	chr4:3423346-3423347	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539336325	chr4:3423350-3423351	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568292336	chr4:3423365-3423366	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534081404	chr4:3423376-3423377	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547342663	chr4:3423379-3423380	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570748166	chr4:3423380-3423381	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539018450	chr4:3423397-3423398	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555750467	chr4:3423403-3423404	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575722426	chr4:3423407-3423408	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139776926	chr4:3423412-3423413	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs3789739	chr4:3423442-3423443	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10018159	chr4:3423448-3423449	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541632336	chr4:3423474-3423475	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564577034	chr4:3423495-3423496	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530555562	chr4:3423538-3423539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543827173	chr4:3423543-3423544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184381661	chr4:3423553-3423554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143976408	chr4:3423559-3423560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375085762	chr4:3423632-3423633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187285311	chr4:3423639-3423640	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572529930	chr4:3423671-3423672	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144916223	chr4:3423675-3423676	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527469277	chr4:3423691-3423692	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191703812	chr4:3423694-3423695	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570614948	chr4:3423695-3423696	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
2	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
3	chr4:3408800-3436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:3411000-3436400	Strong transcription	Fetal Intestine Small	intestine
5	chr4:3411200-3436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:3411200-3436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:3411400-3425600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:3413600-3437000	Strong transcription	Esophagus	oesophagus
9	chr4:3415000-3435600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:3415000-3436400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:3415400-3437000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:3415600-3426000	Strong transcription	HepG2	liver
13	chr4:3415600-3433600	Weak transcription	Fetal Kidney	kidney
14	chr4:3415800-3436400	Strong transcription	Lung	lung
15	chr4:3416200-3423000	Strong transcription	Fetal Stomach	stomach
16	chr4:3416400-3436200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:3416400-3436800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:3416600-3423400	Weak transcription	Primary B cells from cord blood	blood
19	chr4:3416600-3423600	Weak transcription	Brain Angular Gyrus	brain
20	chr4:3416600-3428200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:3416600-3435600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:3416600-3437800	Weak transcription	Stomach Mucosa	stomach
23	chr4:3416800-3432000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:3416800-3436600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:3416800-3438400	Weak transcription	NHDF-Ad	bronchial
26	chr4:3417000-3422800	Weak transcription	Fetal Thymus	thymus
27	chr4:3417200-3427200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:3417200-3433400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr4:3417200-3435600	Strong transcription	Fetal Intestine Large	intestine
30	chr4:3417200-3444800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:3417400-3422800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr4:3417400-3427200	Strong transcription	Spleen	Spleen
33	chr4:3417400-3431000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:3417800-3427400	Strong transcription	Primary T cells from cord blood	blood
35	chr4:3417800-3427400	Strong transcription	Brain Hippocampus Middle	brain
36	chr4:3417800-3432800	Weak transcription	Small Intestine	intestine
37	chr4:3417800-3435200	Strong transcription	Adipose Nuclei	Adipose
38	chr4:3417800-3435200	Strong transcription	Fetal Brain Female	brain
39	chr4:3418000-3426800	Strong transcription	Left Ventricle	heart
40	chr4:3418200-3426800	Weak transcription	HUVEC	blood vessel
41	chr4:3418200-3436600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:3418200-3438000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:3418200-3438000	Weak transcription	A549	lung
44	chr4:3418600-3428200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:3418800-3426200	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:3419000-3423800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:3419000-3434600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:3419200-3424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:3419200-3444600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:3419400-3438400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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