Variant report

Variant	rs4150035
Chromosome Location	chr4:78077557-78077558
allele	C/T
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	POLR2A	chr4:78077543-78078637	HCT-116	colon:	n/a	n/a
2	E2F4	chr4:78077427-78078491	MCF10A-Er-Src	breast:	n/a	chr4:78078336-78078345
3	HDAC2	chr4:78077523-78079738	MCF-7	breast:	n/a	n/a
4	TBP	chr4:78077552-78078694	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chr4:78077059-78078526	SK-N-SH	brain:	n/a	chr4:78078336-78078345
6	NRF1	chr4:78077554-78078177	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:78077489-78079663	K562	blood:	n/a	n/a
8	GATA1	chr4:78077228-78078848	PBDE	blood:	n/a	n/a
9	RELA	chr4:78077471-78078591	GM19099	blood:	n/a	n/a
10	CEBPB	chr4:78077540-78078360	Hela-S3	cervix:	n/a	chr4:78077651-78077664 chr4:78077919-78077927
11	POLR2A	chr4:78077529-78079836	ECC-1	luminal epithelium:	n/a	n/a
12	RFX5	chr4:78076437-78080872	SK-N-SH	brain:	n/a	chr4:78078008-78078017 chr4:78077919-78077928 chr4:78077871-78077886 chr4:78077875-78077884
13	EP300	chr4:78077443-78079827	ECC-1	luminal epithelium:	n/a	chr4:78079396-78079405 chr4:78078789-78078805
14	TAF1	chr4:78077538-78079699	ECC-1	luminal epithelium:	n/a	n/a
15	PAX5	chr4:78077478-78078395	GM12878	blood:	n/a	chr4:78078299-78078308 chr4:78077754-78077763 chr4:78077781-78077799 chr4:78077780-78077799 chr4:78077742-78077769
16	TCF12	chr4:78077388-78078502	ECC-1	luminal epithelium:	n/a	n/a
17	PML	chr4:78077476-78078891	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:78076335-78079928	GM12891	blood:	n/a	n/a
19	ATF2	chr4:78077505-78078567	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:78077516-78079787	HCT-116	colon:	n/a	n/a
21	CEBPB	chr4:78077502-78078112	IMR90	lung:	n/a	chr4:78077651-78077664 chr4:78077919-78077927
22	POLR2A	chr4:78077468-78078945	PBDE	blood:	n/a	n/a
23	FOXM1	chr4:78077457-78078604	ECC-1	luminal epithelium:	n/a	n/a
24	MXI1	chr4:78076321-78080236	SK-N-SH	brain:	n/a	n/a
25	BCLAF1	chr4:78077517-78078484	GM12878	blood:	n/a	chr4:78077941-78077948
26	POLR2A	chr4:78077344-78080984	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr4:78077495-78078283	T-47D	breast:	n/a	n/a
28	SIN3AK20	chr4:78077385-78079781	MCF-7	breast:	n/a	n/a
29	KAP1	chr4:78076389-78078420	HEK293	kidney:	n/a	n/a
30	NFYB	chr4:78077508-78078296	Hela-S3	cervix:	n/a	chr4:78077945-78077960 chr4:78078005-78078020 chr4:78077916-78077931 chr4:78078007-78078017 chr4:78077916-78077930 chr4:78077916-78077931 chr4:78077913-78077928 chr4:78078005-78078019 chr4:78077918-78077928 chr4:78078005-78078020
31	POLR2A	chr4:78077241-78080140	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:78077443-78079647	HepG2	liver:	n/a	n/a
33	EP300	chr4:78076171-78079963	SK-N-SH	brain:	n/a	chr4:78077003-78077017 chr4:78079396-78079405 chr4:78077096-78077106 chr4:78076312-78076326 chr4:78078789-78078805 chr4:78076371-78076385 chr4:78076375-78076384 chr4:78077186-78077196
34	MXI1	chr4:78077539-78078473	K562	blood:	n/a	n/a
35	MAX	chr4:78077526-78078740	ECC-1	luminal epithelium:	n/a	chr4:78078327-78078338 chr4:78078328-78078337
36	SIN3A	chr4:78077198-78079976	H1-hESC	embryonic stem cell:	n/a	chr4:78078791-78078802
37	CHD1	chr4:78077025-78077782	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr4:78077520-78078331	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:78077242-78079709	GM19099	blood:	n/a	n/a
40	POLR2A	chr4:78077390-78079778	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr4:78077521-78078661	SK-N-SH	brain:	n/a	n/a
42	JUND	chr4:78077311-78078476	H1-hESC	embryonic stem cell:	n/a	chr4:78077920-78077929 chr4:78078009-78078018
43	NFIC	chr4:78077526-78078459	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:78077539-78079882	H1-neurons	neurons:	n/a	n/a
45	MAX	chr4:78077555-78079746	MCF-7	breast:	n/a	chr4:78078327-78078338 chr4:78079492-78079502 chr4:78078328-78078337
46	POLR2A	chr4:78077401-78080562	GM12878	blood:	n/a	n/a
47	SIN3AK20	chr4:78077407-78080002	MCF-7	breast:	n/a	n/a
48	TEAD4	chr4:78077488-78078945	K562	blood:	n/a	n/a
49	SP1	chr4:78077466-78078616	HCT-116	colon:	n/a	chr4:78078272-78078281 chr4:78077917-78077938 chr4:78078270-78078282 chr4:78078109-78078120 chr4:78078335-78078345 chr4:78078335-78078345 chr4:78078335-78078344 chr4:78078335-78078344 chr4:78078334-78078346 chr4:78078336-78078345 chr4:78078334-78078346 chr4:78078267-78078281 chr4:78078335-78078349
50	RCOR1	chr4:78077311-78079642	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
2	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
3	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
4	chr4:78076120..78077897-chr4:78090608..78092538,2	K562	blood:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:

Variant related genes	Relation type
CCNG2	TF binding region
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17002420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59392243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60089254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6532864	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6814525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7656746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78067800-78077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:78071200-78077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:78073600-78077600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:78074800-78078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:78075400-78077600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:78075400-78077600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:78075600-78077600	Weak transcription	Esophagus	oesophagus
8	chr4:78075600-78078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:78075600-78078000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:78076000-78077800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:78076200-78077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:78076400-78077600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr4:78076400-78077800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:78076400-78077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:78076400-78077800	Flanking Active TSS	GM12878-XiMat	blood
16	chr4:78076600-78079400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:78076600-78080400	Active TSS	Fetal Brain Male	brain
18	chr4:78076800-78077600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:78076800-78077600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr4:78076800-78077600	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr4:78076800-78077600	Flanking Active TSS	NHEK	skin
22	chr4:78076800-78077800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:78076800-78077800	Flanking Active TSS	HMEC	breast
24	chr4:78076800-78079800	Active TSS	Fetal Muscle Trunk	muscle
25	chr4:78076800-78080000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:78076800-78080200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:78076800-78080200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:78076800-78080800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr4:78077000-78077600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:78077000-78077600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:78077000-78077600	Flanking Active TSS	HepG2	liver
32	chr4:78077000-78077800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr4:78077000-78077800	Flanking Active TSS	Hela-S3	cervix
34	chr4:78077000-78079600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:78077000-78080000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:78077000-78080000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:78077000-78080000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:78077200-78077600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:78077200-78077600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr4:78077200-78077600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr4:78077200-78077600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr4:78077200-78077600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr4:78077200-78077600	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr4:78077200-78077600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr4:78077200-78077600	Flanking Active TSS	NH-A	brain
46	chr4:78077200-78077800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:78077200-78077800	Active TSS	Right Atrium	heart
48	chr4:78077200-78077800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:78077200-78077800	Flanking Active TSS	HUVEC	blood vessel
50	chr4:78077200-78078000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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