Variant report

Variant	rs36232788
Chromosome Location	chr5:36151431-36151432
allele	C/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	TAF1	chr5:36151084-36152398	H1-neurons	neurons:	n/a	n/a
2	STAT5A	chr5:36150943-36151536	K562	blood:	n/a	n/a
3	JUND	chr5:36150843-36152639	K562	blood:	n/a	chr5:36152244-36152255
4	BHLHE40	chr5:36150790-36151506	K562	blood:	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	POLR2A	chr5:36150977-36152633	K562	blood:	n/a	n/a
9	CEBPB	chr5:36151069-36151464	K562	blood:	n/a	n/a
10	POLR2A	chr5:36151067-36151485	GM12891	blood:	n/a	n/a
11	CHD2	chr5:36151094-36152465	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr5:36150801-36152866	MCF-7	breast:	n/a	n/a
13	MAX	chr5:36151213-36152542	A549	lung:	n/a	chr5:36151652-36151663
14	YY1	chr5:36151156-36152399	K562	blood:	n/a	chr5:36151859-36151873 chr5:36151708-36151719
15	NFYB	chr5:36151138-36151472	K562	blood:	n/a	n/a
16	ELF1	chr5:36151153-36152472	GM12878	blood:	n/a	chr5:36152005-36152014 chr5:36151861-36151873
17	POLR2A	chr5:36150965-36151620	K562	blood:	n/a	n/a
18	TAF1	chr5:36151054-36151494	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:36150424-36152426	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:36151098-36151462	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr5:36151016-36151566	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr5:36150916-36151472	HepG2	liver:	n/a	n/a
23	YY1	chr5:36151139-36151448	K562	blood:	n/a	n/a
24	MXI1	chr5:36151009-36152842	GM12878	blood:	n/a	chr5:36152713-36152728
25	MXI1	chr5:36150616-36153479	IMR90	lung:	n/a	chr5:36152713-36152728
26	E2F6	chr5:36151181-36152620	K562	blood:	n/a	chr5:36152286-36152294 chr5:36152283-36152294 chr5:36152285-36152295 chr5:36152287-36152294 chr5:36152284-36152295 chr5:36152286-36152294
27	SIN3AK20	chr5:36151193-36152370	PANC-1	pancreas:	n/a	n/a
28	MAX	chr5:36151138-36152626	ECC-1	luminal epithelium:	n/a	chr5:36151652-36151663
29	POLR2A	chr5:36151102-36151484	GM12878	blood:	n/a	n/a
30	RCOR1	chr5:36150773-36152989	Hela-S3	cervix:	n/a	n/a
31	RELA	chr5:36151168-36152730	GM15510	blood:	n/a	n/a
32	MXI1	chr5:36150876-36153121	Hela-S3	cervix:	n/a	chr5:36152713-36152728
33	ATF3	chr5:36151107-36151468	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:36150787-36152954	GM12878	blood:	n/a	n/a
35	NRF1	chr5:36151034-36152688	SK-N-SH	brain:	n/a	chr5:36152281-36152290 chr5:36151423-36151437 chr5:36151998-36152007 chr5:36151423-36151434
36	POLR2A	chr5:36151122-36151454	GM12878	blood:	n/a	n/a
37	E2F6	chr5:36151320-36152510	A549	lung:	n/a	chr5:36152286-36152294 chr5:36152283-36152294 chr5:36152285-36152295 chr5:36152287-36152294 chr5:36152284-36152295 chr5:36152286-36152294
38	IRF1	chr5:36150881-36151537	K562	blood:	n/a	n/a
39	POLR2A	chr5:36151051-36152540	HL-60	blood:	n/a	n/a
40	FOXP2	chr5:36151187-36151443	SK-N-MC	brain:	n/a	n/a
41	MAX	chr5:36150841-36153237	Hela-S3	cervix:	n/a	chr5:36151652-36151663
42	POLR2A	chr5:36151206-36151521	MCF-7	breast:	n/a	n/a
43	CEBPB	chr5:36151192-36151500	HepG2	liver:	n/a	n/a
44	YY1	chr5:36151112-36151462	GM12878	blood:	n/a	n/a
45	MAX	chr5:36151058-36153129	Hela-S3	cervix:	n/a	chr5:36151652-36151663
46	NR2F2	chr5:36150888-36151638	K562	blood:	n/a	n/a
47	YY1	chr5:36151137-36151520	GM12878	blood:	n/a	n/a
48	E2F4	chr5:36151136-36152664	Hela-S3	cervix:	n/a	chr5:36152286-36152294 chr5:36152283-36152294 chr5:36152285-36152295 chr5:36152287-36152294 chr5:36152284-36152295 chr5:36152286-36152294
49	POLR2A	chr5:36151072-36151565	GM12892	blood:	n/a	n/a
50	SIN3AK20	chr5:36151113-36152428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:16770619..16771128-chr5:36151289..36152089,2	Hela-S3	cervix:
2	chr1:205718843..205719712-chr5:36151292..36152216,2	Hela-S3	cervix:
3	chr5:36150865..36151697-chr5:40679545..40680405,2	Hela-S3	cervix:
4	chr5:36150467..36154483-chr5:36238242..36244873,13	K562	blood:
5	chr5:36114529..36117143-chr5:36150677..36152194,2	K562	blood:
6	chr5:36151113..36153475-chr5:36154153..36156176,2	MCF-7	breast:
7	chr10:75532486..75533004-chr5:36150718..36151470,2	Hela-S3	cervix:
8	chr5:36142364..36144449-chr5:36149144..36153081,4	MCF-7	breast:
9	chr5:36151176..36151683-chr6:111804800..111805459,2	Hela-S3	cervix:
10	chr5:36141299..36144114-chr5:36149805..36153077,4	K562	blood:
11	chr5:36114529..36117143-chr5:36150539..36152194,3	K562	blood:
12	chr3:12705150..12706149-chr5:36150915..36151544,2	Hela-S3	cervix:
13	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:
14	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
15	chr5:36149758..36152986-chr5:36154099..36157491,3	MCF-7	breast:

Variant related genes	Relation type
SKP2	TF binding region
RNU6-1305P	TF binding region
MIR580	TF binding region
ENSG00000268790	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000231889	Chromatin interaction
ENSG00000132155	Chromatin interaction
ENSG00000201223	Chromatin interaction
ENSG00000069275	Chromatin interaction
ENSG00000164187	Chromatin interaction
ENSG00000009413	Chromatin interaction
ENSG00000214046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16902708	1.00[EUR][1000 genomes]
rs16902743	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16902746	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs267777	1.00[EUR][1000 genomes]
rs267780	1.00[EUR][1000 genomes]
rs3870362	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71617744	0.84[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	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	chr5:36150200-36151800	Active TSS	Right Atrium	heart
3	chr5:36150400-36151600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr5:36150400-36153400	Active TSS	K562	blood
5	chr5:36150600-36151600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr5:36150600-36151600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:36150600-36151600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:36150600-36151600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:36150600-36151600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr5:36150600-36152800	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:36150600-36153400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:36150600-36153600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:36150600-36154000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:36150800-36151600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr5:36150800-36152800	Active TSS	Right Ventricle	heart
16	chr5:36150800-36153000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr5:36150800-36153000	Active TSS	Aorta	Aorta
18	chr5:36150800-36153200	Active TSS	Colonic Mucosa	Colon
19	chr5:36150800-36153400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:36150800-36153400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:36150800-36153400	Active TSS	Fetal Intestine Large	intestine
22	chr5:36150800-36153400	Active TSS	Fetal Thymus	thymus
23	chr5:36150800-36153400	Active TSS	NHDF-Ad	bronchial
24	chr5:36150800-36153600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:36150800-36153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:36150800-36153600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:36150800-36153600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:36150800-36153600	Active TSS	Psoas Muscle	Psoas
29	chr5:36150800-36153800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr5:36150800-36153800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:36150800-36153800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:36151000-36151600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:36151000-36152400	Active TSS	Thymus	Thymus
34	chr5:36151000-36152600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr5:36151000-36152600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:36151000-36152600	Active TSS	Colon Smooth Muscle	Colon
37	chr5:36151000-36152600	Bivalent/Poised TSS	HepG2	liver
38	chr5:36151000-36152800	Active TSS	Fetal Muscle Leg	muscle
39	chr5:36151000-36152800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr5:36151000-36152800	Active TSS	Stomach Mucosa	stomach
41	chr5:36151000-36153000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:36151000-36153000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:36151000-36153000	Active TSS	Esophagus	oesophagus
44	chr5:36151000-36153000	Active TSS	Left Ventricle	heart
45	chr5:36151000-36153000	Active TSS	Ovary	ovary
46	chr5:36151000-36153000	Active TSS	Pancreas	Pancrea
47	chr5:36151000-36153000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr5:36151000-36153000	Active TSS	HSMM	muscle
49	chr5:36151000-36153000	Active TSS	Osteobl	bone
50	chr5:36151000-36153200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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