Variant report

Variant	rs4150031
Chromosome Location	chr4:78077235-78077236
allele	G/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	chr4:78077085-78077273	K562	blood:	n/a	n/a
2	NRF1	chr4:78077059-78078526	SK-N-SH	brain:	n/a	chr4:78078336-78078345
3	GATA1	chr4:78077228-78078848	PBDE	blood:	n/a	n/a
4	RFX5	chr4:78076437-78080872	SK-N-SH	brain:	n/a	chr4:78078008-78078017 chr4:78077919-78077928 chr4:78077871-78077886 chr4:78077875-78077884
5	EP300	chr4:78077023-78077350	T-47D	breast:	n/a	chr4:78077096-78077106 chr4:78077186-78077196
6	POLR2A	chr4:78076335-78079928	GM12891	blood:	n/a	n/a
7	MXI1	chr4:78076321-78080236	SK-N-SH	brain:	n/a	n/a
8	EP300	chr4:78076820-78077466	T-47D	breast:	n/a	chr4:78077003-78077017 chr4:78077096-78077106 chr4:78077186-78077196
9	KAP1	chr4:78076389-78078420	HEK293	kidney:	n/a	n/a
10	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
11	SIN3A	chr4:78077198-78079976	H1-hESC	embryonic stem cell:	n/a	chr4:78078791-78078802
12	CHD1	chr4:78077025-78077782	H1-hESC	embryonic stem cell:	n/a	n/a
13	GATA3	chr4:78076860-78077359	T-47D	breast:	n/a	n/a
14	REST	chr4:78076720-78080042	H1-neurons	neurons:	n/a	chr4:78078781-78078791 chr4:78079486-78079499 chr4:78078809-78078819 chr4:78078801-78078819 chr4:78079352-78079365 chr4:78078804-78078817 chr4:78078779-78078793 chr4:78077839-78077852
15	POLR2A	chr4:78075949-78079772	Raji	blood:	n/a	n/a
16	FOXA1	chr4:78077019-78077353	T-47D	breast:	n/a	chr4:78077183-78077195 chr4:78077181-78077196
17	FOXA1	chr4:78076772-78077364	T-47D	breast:	n/a	chr4:78077183-78077195 chr4:78077181-78077196
18	TFAP2C	chr4:78077114-78080005	Hela-S3	cervix:	n/a	chr4:78079525-78079540 chr4:78077803-78077818
19	GATA3	chr4:78076738-78077396	T-47D	breast:	n/a	n/a
20	POLR2A	chr4:78076996-78080060	Hela-S3	cervix:	n/a	n/a
21	KAP1	chr4:78076761-78078433	U2OS	brain:	n/a	n/a
22	CTCF	chr4:78077172-78077249	K562	blood:	n/a	n/a
23	MAZ	chr4:78076629-78080121	IMR90	lung:	n/a	chr4:78078327-78078338 chr4:78079492-78079502 chr4:78078328-78078337
24	RFX5	chr4:78077159-78078597	Hela-S3	cervix:	n/a	chr4:78078008-78078017 chr4:78077919-78077928 chr4:78077871-78077886 chr4:78077875-78077884
25	POLR2A	chr4:78077024-78077344	H1-hESC	embryonic stem cell:	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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13108325	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13115931	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13134753	0.87[ASN][1000 genomes]
rs17397736	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17397972	0.95[EUR][1000 genomes]
rs17398028	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs34171188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34623364	0.95[EUR][1000 genomes]
rs34757592	0.95[EUR][1000 genomes]
rs34820788	1.00[ASN][1000 genomes]
rs35974904	0.93[ASN][1000 genomes]
rs36045205	0.95[EUR][1000 genomes]
rs4150044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150052	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4150067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150084	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4150090	1.00[ASN][1000 genomes]
rs59493111	0.86[ASN][1000 genomes]
rs6816591	1.00[CEU][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs6822060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71607401	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71609303	1.00[ASN][1000 genomes]
rs729239	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs729241	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7655142	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657629	0.86[ASN][1000 genomes]
rs7659891	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7674825	1.00[AFR][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:113 , 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	chr4:78069200-78077400	Weak transcription	HSMMtube	muscle
3	chr4:78071200-78077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:78072000-78077400	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:78072400-78077400	Enhancers	Fetal Thymus	thymus
6	chr4:78073200-78077400	Enhancers	Primary T cells from cord blood	blood
7	chr4:78073200-78077400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr4:78073600-78077400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:78073600-78077600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:78074000-78077400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:78074800-78078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:78075200-78077400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:78075400-78077400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:78075400-78077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:78075400-78077400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:78075400-78077600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:78075400-78077600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:78075600-78077600	Weak transcription	Esophagus	oesophagus
19	chr4:78075600-78078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:78075600-78078000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:78075800-78077400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:78076000-78077400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:78076000-78077400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:78076000-78077400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:78076000-78077400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:78076000-78077800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr4:78076200-78077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:78076400-78077400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr4:78076400-78077400	Enhancers	Thymus	Thymus
30	chr4:78076400-78077600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr4:78076400-78077800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:78076400-78077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:78076400-78077800	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:78076600-78077400	Enhancers	Stomach Mucosa	stomach
35	chr4:78076600-78079400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:78076600-78080400	Active TSS	Fetal Brain Male	brain
37	chr4:78076800-78077400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:78076800-78077400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:78076800-78077400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr4:78076800-78077400	Enhancers	Colonic Mucosa	Colon
41	chr4:78076800-78077400	Flanking Active TSS	Fetal Brain Female	brain
42	chr4:78076800-78077400	Enhancers	Fetal Heart	heart
43	chr4:78076800-78077400	Flanking Active TSS	Fetal Lung	lung
44	chr4:78076800-78077400	Enhancers	Placenta	Placenta
45	chr4:78076800-78077600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:78076800-78077600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr4:78076800-78077600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr4:78076800-78077600	Flanking Active TSS	NHEK	skin
49	chr4:78076800-78077800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr4:78076800-78077800	Flanking Active TSS	HMEC	breast

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