Variant report

Variant	esv3331205
Chromosome Location	chr4:2697654-2701852
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	ATF2	chr4:2697995-2698718	GM12878	blood:	n/a	n/a
2	ATF2	chr4:2697871-2698708	GM12878	blood:	n/a	n/a
3	BATF	chr4:2698084-2698552	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:2698041-2698507	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:2698095-2698489	GM12878	blood:	n/a	n/a
6	BCLAF1	chr4:2697963-2698880	GM12878	blood:	n/a	n/a
7	BCLAF1	chr4:2698033-2698657	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:2699808-2700120	HepG2	liver:	n/a	n/a
9	BHLHE40	chr4:2698003-2698670	GM12878	blood:	n/a	n/a
10	CEBPB	chr4:2699827-2699925	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:2697949-2698638	GM12878	blood:	n/a	n/a
12	CEBPB	chr4:2698119-2698462	GM12878	blood:	n/a	n/a
13	CHD2	chr4:2698061-2698723	GM12878	blood:	n/a	n/a
14	CREB1	chr4:2698013-2698652	GM12878	blood:	n/a	n/a
15	CTCF	chr4:2698300-2698450	GM12864	blood:	n/a	chr4:2698338-2698351
16	CTCF	chr4:2698260-2698410	GM12871	blood:	n/a	chr4:2698338-2698351
17	CTCF	chr4:2698360-2698510	GM12865	blood:	n/a	n/a
18	CTCF	chr4:2698240-2698390	GM12878	blood:	n/a	chr4:2698338-2698351
19	CTCF	chr4:2698236-2698489	GM12891	blood:	n/a	chr4:2698338-2698351
20	CTCF	chr4:2698400-2698550	GM12870	blood:	n/a	n/a
21	CTCF	chr4:2698240-2698467	GM12878	blood:	n/a	chr4:2698338-2698351
22	CTCF	chr4:2698224-2698483	GM12892	blood:	n/a	chr4:2698338-2698351
23	CTCF	chr4:2698280-2698430	GM12869	blood:	n/a	chr4:2698338-2698351
24	CTCF	chr4:2698280-2698430	GM06990	blood:	n/a	chr4:2698338-2698351
25	CTCF	chr4:2698221-2698504	GM19239	blood:	n/a	chr4:2698338-2698351
26	CTCF	chr4:2698260-2698410	GM12873	blood:	n/a	chr4:2698338-2698351
27	CTCF	chr4:2698252-2698492	GM19240	blood:	n/a	chr4:2698338-2698351
28	CTCF	chr4:2698240-2698390	GM12865	blood:	n/a	chr4:2698338-2698351
29	CTCF	chr4:2698309-2698373	NHEK	skin:	n/a	chr4:2698338-2698351
30	CTCF	chr4:2698300-2698450	GM12872	blood:	n/a	chr4:2698338-2698351
31	CTCF	chr4:2698286-2698375	GM13976	blood:	n/a	chr4:2698338-2698351
32	CTCF	chr4:2698280-2698430	GM12873	blood:	n/a	chr4:2698338-2698351
33	CTCF	chr4:2698320-2698470	GM12868	blood:	n/a	chr4:2698338-2698351
34	CTCF	chr4:2698280-2698430	GM12875	blood:	n/a	chr4:2698338-2698351
35	CTCF	chr4:2698234-2698493	GM19238	blood:	n/a	chr4:2698338-2698351
36	CTCF	chr4:2698283-2698436	GM13977	blood:	n/a	chr4:2698338-2698351
37	CTCF	chr4:2698240-2698390	GM06990	blood:	n/a	chr4:2698338-2698351
38	CTCF	chr4:2698326-2698375	GM20000	blood:	n/a	chr4:2698338-2698351
39	CTCF	chr4:2698380-2698530	GM12866	blood:	n/a	n/a
40	CTCF	chr4:2698380-2698530	GM12872	blood:	n/a	n/a
41	CTCF	chr4:2698340-2698490	GM12874	blood:	n/a	n/a
42	CTCF	chr4:2698254-2698420	Spleen_OC	spleen:	n/a	chr4:2698338-2698351
43	CTCF	chr4:2698320-2698470	GM12873	blood:	n/a	chr4:2698338-2698351
44	CTCF	chr4:2698280-2698430	GM12871	blood:	n/a	chr4:2698338-2698351
45	CTCF	chr4:2698287-2698407	GM10248	blood:	n/a	chr4:2698338-2698351
46	CTCF	chr4:2698260-2698410	GM12872	blood:	n/a	chr4:2698338-2698351
47	CTCF	chr4:2698320-2698470	GM12864	blood:	n/a	chr4:2698338-2698351
48	CTCF	chr4:2698220-2698370	GM12870	blood:	n/a	chr4:2698338-2698351
49	CTCF	chr4:2698340-2698490	GM12870	blood:	n/a	n/a
50	CTCF	chr4:2698139-2698576	GM12878	blood:	n/a	chr4:2698338-2698351

No.	Distal block	Cell Line	Cell type
1	chr4:2694438..2696914-chr4:2698682..2700465,2	K562	blood:
2	chr4:2698027..2699882-chr4:2708019..2712089,3	K562	blood:
3	chr4:2693061..2695542-chr4:2698679..2700261,2	K562	blood:

Variant related genes	Relation type
FAM193A	TF binding region

Extended variants
information (count: 192 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs146185030	chr4:2697696-2697697	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs546216915	chr4:2697741-2697742	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs199894287	chr4:2697756-2697757	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs577834998	chr4:2697757-2697758	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs4040736	chr4:2697783-2697784	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs55859546	chr4:2697794-2697795	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576660256	chr4:2697838-2697839	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542128604	chr4:2697876-2697877	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562407519	chr4:2697879-2697880	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs527840928	chr4:2697908-2697909	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543186345	chr4:2697918-2697919	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541650352	chr4:2697933-2697934	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368921748	chr4:2697942-2697943	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559810497	chr4:2697955-2697956	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532102131	chr4:2697959-2697960	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551739178	chr4:2698000-2698001	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573756628	chr4:2698014-2698015	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376451046	chr4:2698062-2698063	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374131541	chr4:2698074-2698075	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376642932	chr4:2698149-2698150	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371223140	chr4:2698173-2698174	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375755360	chr4:2698200-2698201	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1803020	chr4:2698202-2698203	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143435275	chr4:2698209-2698210	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182204199	chr4:2698213-2698214	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs16843217	chr4:2698230-2698231	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113777598	chr4:2698276-2698277	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374457636	chr4:2698289-2698290	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148867245	chr4:2698293-2698294	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143562292	chr4:2698297-2698298	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188045804	chr4:2698330-2698331	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368890722	chr4:2698339-2698340	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200138537	chr4:2698342-2698343	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372384269	chr4:2698350-2698351	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs3733215	chr4:2698364-2698365	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs533741102	chr4:2698371-2698372	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577846726	chr4:2698377-2698378	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570936639	chr4:2698419-2698420	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs231712	chr4:2698422-2698423	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114238019	chr4:2698431-2698432	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576310068	chr4:2698461-2698462	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139146745	chr4:2698484-2698485	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4690086	chr4:2698524-2698525	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193248135	chr4:2698606-2698607	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs527248309	chr4:2698615-2698616	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs541201844	chr4:2698626-2698627	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs9684079	chr4:2698640-2698641	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577830105	chr4:2698644-2698645	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs545462767	chr4:2698666-2698667	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs542745198	chr4:2698668-2698669	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	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
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2638200-2724400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2673600-2714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2673800-2698000	Weak transcription	Fetal Heart	heart
4	chr4:2675200-2698200	Weak transcription	Psoas Muscle	Psoas
5	chr4:2677400-2698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:2679400-2712600	Strong transcription	Fetal Stomach	stomach
7	chr4:2680200-2712800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:2680400-2712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:2680800-2710200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:2681600-2712600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:2682000-2699400	Strong transcription	Fetal Intestine Large	intestine
12	chr4:2682000-2706000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:2682000-2707600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:2682000-2708000	Strong transcription	Dnd41	blood
15	chr4:2682200-2708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:2682600-2707200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr4:2682600-2709800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:2682800-2710000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:2683000-2699200	Strong transcription	Liver	Liver
20	chr4:2683000-2707200	Strong transcription	Placenta	Placenta
21	chr4:2683200-2706400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:2683200-2710000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:2683400-2710400	Strong transcription	Osteobl	bone
24	chr4:2684000-2706800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:2684000-2707000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:2684400-2706600	Strong transcription	Primary T cells from cord blood	blood
27	chr4:2684600-2698600	Strong transcription	HepG2	liver
28	chr4:2684600-2710400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:2684600-2710800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:2684800-2707000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:2685000-2710000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:2685200-2705400	Strong transcription	Fetal Lung	lung
33	chr4:2685200-2707200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:2685200-2711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:2685400-2698200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:2685400-2706600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:2685400-2707200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:2685400-2707200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr4:2685400-2707400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:2685400-2708000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:2685400-2708800	Strong transcription	Fetal Thymus	thymus
42	chr4:2685400-2709200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:2685600-2699400	Strong transcription	Gastric	stomach
44	chr4:2685600-2700000	Strong transcription	Colon Smooth Muscle	Colon
45	chr4:2685600-2705400	Strong transcription	Brain Substantia Nigra	brain
46	chr4:2685600-2706600	Strong transcription	Brain Anterior Caudate	brain
47	chr4:2685600-2706600	Strong transcription	Lung	lung
48	chr4:2685600-2706800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:2685600-2707200	Strong transcription	Thymus	Thymus
50	chr4:2685600-2707600	Strong transcription	Brain Germinal Matrix	brain

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