Variant report

Variant	rs33671
Chromosome Location	chr5:36152742-36152743
allele	A/G
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	RFX5	chr5:36151854-36152909	Hela-S3	cervix:	n/a	chr5:36152714-36152729 chr5:36152227-36152236 chr5:36152714-36152729 chr5:36152224-36152238 chr5:36152714-36152729
2	BRCA1	chr5:36152596-36152886	Hela-S3	cervix:	n/a	n/a
3	MAX	chr5:36152730-36153144	K562	blood:	n/a	n/a
4	MAFK	chr5:36152652-36152805	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr5:36151200-36152959	H1-hESC	embryonic stem cell:	n/a	chr5:36152713-36152728
6	MYC	chr5:36150838-36153124	K562	blood:	n/a	chr5:36151652-36151663
7	POLR2A	chr5:36151000-36152774	H1-neurons	neurons:	n/a	n/a
8	TEAD4	chr5:36151857-36152829	K562	blood:	n/a	n/a
9	USF2	chr5:36151931-36153189	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr5:36150801-36152866	MCF-7	breast:	n/a	n/a
11	MYC	chr5:36152619-36152758	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr5:36151009-36152842	GM12878	blood:	n/a	chr5:36152713-36152728
13	MXI1	chr5:36150616-36153479	IMR90	lung:	n/a	chr5:36152713-36152728
14	MYC	chr5:36151952-36152789	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr5:36151953-36153019	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr5:36150773-36152989	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr5:36150876-36153121	Hela-S3	cervix:	n/a	chr5:36152713-36152728
18	POLR2A	chr5:36150787-36152954	GM12878	blood:	n/a	n/a
19	TBP	chr5:36151889-36152945	Hela-S3	cervix:	n/a	n/a
20	SPI1	chr5:36151776-36152814	HL-60	blood:	n/a	chr5:36152386-36152399
21	UBTF	chr5:36151755-36152821	K562	blood:	n/a	n/a
22	EP300	chr5:36151882-36152772	GM12878	blood:	n/a	chr5:36152043-36152059 chr5:36151998-36152007 chr5:36152703-36152717
23	ZNF143	chr5:36151735-36152752	GM12878	blood:	n/a	chr5:36152144-36152163 chr5:36152142-36152151 chr5:36152140-36152149 chr5:36152140-36152158
24	MAX	chr5:36150841-36153237	Hela-S3	cervix:	n/a	chr5:36151652-36151663
25	MAX	chr5:36151058-36153129	Hela-S3	cervix:	n/a	chr5:36151652-36151663
26	POLR2A	chr5:36150717-36152816	K562	blood:	n/a	n/a
27	POLR2A	chr5:36150980-36152862	K562	blood:	n/a	n/a
28	POLR2A	chr5:36150709-36153138	Hela-S3	cervix:	n/a	n/a
29	WRNIP1	chr5:36151863-36152752	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:36150682-36153129	K562	blood:	n/a	n/a
31	CEBPB	chr5:36151894-36153377	Hela-S3	cervix:	n/a	chr5:36153247-36153258 chr5:36153245-36153258 chr5:36153245-36153258 chr5:36153245-36153256 chr5:36153247-36153258
32	HCFC1	chr5:36149977-36153469	Hela-S3	cervix:	n/a	n/a
33	SMARCC2	chr5:36150749-36153196	Hela-S3	cervix:	n/a	chr5:36152140-36152149
34	MYC	chr5:36150918-36153102	NB4	blood:	n/a	chr5:36151652-36151663
35	KAP1	chr5:36151795-36152769	HEK293	kidney:	n/a	n/a
36	POLR2A	chr5:36150953-36152805	HL-60	blood:	n/a	n/a
37	MXI1	chr5:36150544-36153311	SK-N-SH	brain:	n/a	chr5:36152713-36152728
38	MAX	chr5:36150782-36153218	NB4	blood:	n/a	chr5:36151652-36151663
39	POLR2A	chr5:36150847-36153478	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:36150871-36153296	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr5:36150818-36153116	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr5:36151762-36152754	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr5:36151791-36152881	K562	blood:	n/a	n/a
44	POLR2A	chr5:36151081-36152926	GM19099	blood:	n/a	n/a
45	TCF12	chr5:36151626-36152753	A549	lung:	n/a	n/a
46	GTF2F1	chr5:36150798-36153007	Hela-S3	cervix:	n/a	n/a
47	MYC	chr5:36150830-36153051	K562	blood:	n/a	chr5:36151652-36151663
48	POLR2A	chr5:36150898-36153217	K562	blood:	n/a	n/a
49	RCOR1	chr5:36151825-36152771	K562	blood:	n/a	n/a
50	MAX	chr5:36151851-36153028	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:36150467..36154483-chr5:36238242..36244873,13	K562	blood:
2	chr5:36151113..36153475-chr5:36154153..36156176,2	MCF-7	breast:
3	chr5:36142364..36144449-chr5:36149144..36153081,4	MCF-7	breast:
4	chr5:36141299..36144114-chr5:36149805..36153077,4	K562	blood:
5	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:
6	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
7	chr5:36149758..36152986-chr5:36154099..36157491,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-1305P	TF binding region
LMBRD2	TF binding region
SKP2	TF binding region
MIR580	TF binding region
ENSG00000201223	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000164187	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10037789	0.82[JPT][hapmap]
rs10043359	0.82[JPT][hapmap]
rs171600	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs267757	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs267771	0.94[MEX][hapmap]
rs267775	0.82[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes]
rs267776	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs267778	0.93[ASW][hapmap];0.82[CHB][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs267779	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs267782	0.85[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs267783	0.93[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs267785	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs267789	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs267793	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33670	0.91[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs43189	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869469	0.84[EUR][1000 genomes];0.96[ASN][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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36148600-36154600	Active TSS	GM12878-XiMat	blood
2	chr5:36150400-36153400	Active TSS	K562	blood
3	chr5:36150600-36152800	Active TSS	Stomach Smooth Muscle	stomach
4	chr5:36150600-36153400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:36150600-36153600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:36150600-36154000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr5:36150800-36152800	Active TSS	Right Ventricle	heart
8	chr5:36150800-36153000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr5:36150800-36153000	Active TSS	Aorta	Aorta
10	chr5:36150800-36153200	Active TSS	Colonic Mucosa	Colon
11	chr5:36150800-36153400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:36150800-36153400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:36150800-36153400	Active TSS	Fetal Intestine Large	intestine
14	chr5:36150800-36153400	Active TSS	Fetal Thymus	thymus
15	chr5:36150800-36153400	Active TSS	NHDF-Ad	bronchial
16	chr5:36150800-36153600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:36150800-36153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:36150800-36153600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:36150800-36153600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:36150800-36153600	Active TSS	Psoas Muscle	Psoas
21	chr5:36150800-36153800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:36150800-36153800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:36150800-36153800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:36151000-36152800	Active TSS	Fetal Muscle Leg	muscle
25	chr5:36151000-36152800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:36151000-36152800	Active TSS	Stomach Mucosa	stomach
27	chr5:36151000-36153000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:36151000-36153000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:36151000-36153000	Active TSS	Esophagus	oesophagus
30	chr5:36151000-36153000	Active TSS	Left Ventricle	heart
31	chr5:36151000-36153000	Active TSS	Ovary	ovary
32	chr5:36151000-36153000	Active TSS	Pancreas	Pancrea
33	chr5:36151000-36153000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr5:36151000-36153000	Active TSS	HSMM	muscle
35	chr5:36151000-36153000	Active TSS	Osteobl	bone
36	chr5:36151000-36153200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:36151000-36153200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:36151000-36153200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:36151000-36153200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:36151000-36153200	Active TSS	Fetal Intestine Small	intestine
41	chr5:36151000-36153200	Active TSS	Lung	lung
42	chr5:36151000-36153400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:36151000-36153400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:36151000-36153400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:36151000-36153400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:36151000-36153400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:36151000-36153400	Active TSS	Fetal Kidney	kidney
48	chr5:36151000-36153400	Active TSS	Fetal Muscle Trunk	muscle
49	chr5:36151000-36153400	Active TSS	A549	lung
50	chr5:36151000-36153400	Active TSS	Hela-S3	cervix

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