Variant report

Variant	rs28362652
Chromosome Location	chr5:36151343-36151344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

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	SRF	chr5:36151181-36151399	K562	blood:	n/a	n/a
5	NFYA	chr5:36151110-36151406	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:36151025-36151386	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr5:36150790-36151506	K562	blood:	n/a	n/a
8	MXI1	chr5:36151200-36152959	H1-hESC	embryonic stem cell:	n/a	chr5:36152713-36152728
9	MYC	chr5:36150838-36153124	K562	blood:	n/a	chr5:36151652-36151663
10	POLR2A	chr5:36151000-36152774	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr5:36150977-36152633	K562	blood:	n/a	n/a
12	RCOR1	chr5:36151017-36151360	K562	blood:	n/a	n/a
13	CEBPB	chr5:36151069-36151464	K562	blood:	n/a	n/a
14	POLR2A	chr5:36151067-36151485	GM12891	blood:	n/a	n/a
15	CHD2	chr5:36151094-36152465	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr5:36150801-36152866	MCF-7	breast:	n/a	n/a
17	MAX	chr5:36151213-36152542	A549	lung:	n/a	chr5:36151652-36151663
18	YY1	chr5:36151156-36152399	K562	blood:	n/a	chr5:36151859-36151873 chr5:36151708-36151719
19	POLR2A	chr5:36151093-36151406	HepG2	liver:	n/a	n/a
20	NFYB	chr5:36151138-36151472	K562	blood:	n/a	n/a
21	ELF1	chr5:36151153-36152472	GM12878	blood:	n/a	chr5:36152005-36152014 chr5:36151861-36151873
22	POLR2A	chr5:36151068-36151419	HCT-116	colon:	n/a	n/a
23	EBF1	chr5:36150926-36151363	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:36150965-36151620	K562	blood:	n/a	n/a
25	TAF1	chr5:36151054-36151494	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr5:36151211-36151389	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:36150424-36152426	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:36151215-36151383	Gliobla	brain:	n/a	n/a
29	POLR2A	chr5:36151098-36151462	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr5:36151016-36151566	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr5:36150916-36151472	HepG2	liver:	n/a	n/a
32	YY1	chr5:36151139-36151448	K562	blood:	n/a	n/a
33	CTCF	chr5:36151085-36151406	K562	blood:	n/a	n/a
34	MXI1	chr5:36151009-36152842	GM12878	blood:	n/a	chr5:36152713-36152728
35	MXI1	chr5:36150616-36153479	IMR90	lung:	n/a	chr5:36152713-36152728
36	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
37	SIN3AK20	chr5:36151193-36152370	PANC-1	pancreas:	n/a	n/a
38	MAX	chr5:36151138-36152626	ECC-1	luminal epithelium:	n/a	chr5:36151652-36151663
39	POLR2A	chr5:36151102-36151484	GM12878	blood:	n/a	n/a
40	RCOR1	chr5:36150773-36152989	Hela-S3	cervix:	n/a	n/a
41	RELA	chr5:36151168-36152730	GM15510	blood:	n/a	n/a
42	MYC	chr5:36151251-36151363	MCF-7	breast:	n/a	n/a
43	MXI1	chr5:36150876-36153121	Hela-S3	cervix:	n/a	chr5:36152713-36152728
44	ATF3	chr5:36151107-36151468	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:36150787-36152954	GM12878	blood:	n/a	n/a
46	SRF	chr5:36151049-36151415	K562	blood:	n/a	n/a
47	NRF1	chr5:36151034-36152688	SK-N-SH	brain:	n/a	chr5:36152281-36152290 chr5:36151423-36151437 chr5:36151998-36152007 chr5:36151423-36151434
48	POLR2A	chr5:36151122-36151454	GM12878	blood:	n/a	n/a
49	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
50	IRF1	chr5:36150881-36151537	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36151301-36151351	HCT-116	colon:	n/a
2	chr5:36151301-36151351	SAEC	small airway:	n/a
3	chr5:36151301-36151351	HCF	heart:	n/a
4	chr5:36151301-36151351	MCF10A-Er-Src	breast:	n/a
5	chr5:36151301-36151351	SK-N-MC	brain:	n/a
6	chr5:36151301-36151351	Hepatocyte	liver:	n/a
7	chr5:36151301-36151351	MCF-7	breast:	n/a
8	chr5:36151301-36151351	HepG2	liver:	n/a
9	chr5:36151301-36151351	AG09319	gingival:	n/a
10	chr5:36151301-36151351	ECC-1	luminal epithelium:	n/a
11	chr5:36151301-36151351	ovcar-3	ovarian:	n/a
12	chr5:36151301-36151351	AoSMC	blood vessel:	n/a
13	chr5:36151301-36151351	SKMC	muscle:	n/a
14	chr5:36151301-36151351	PANC-1	pancreas:	n/a
15	chr5:36151301-36151351	AG04449	skin:	fetal
16	chr5:36151301-36151351	HIPEpiC	eye:	n/a
17	chr5:36151301-36151351	ProgFib	skin:	n/a
18	chr5:36151301-36151351	HAEpiC	amniotic membrane:	n/a
19	chr5:36151301-36151351	AG09309	skin:	n/a
20	chr5:36151301-36151351	HCPEpiC	choroid plexus:	n/a
21	chr5:36151301-36151351	SK-N-SH	brain:	n/a
22	chr5:36151301-36151351	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:36151301-36151351	IMR90	lung:	fetal
24	chr5:36151301-36151351	HEK293	kidney:	embryo
25	chr5:36151301-36151351	HEEpiC	esophagus:	n/a
26	chr5:36151301-36151351	HL-60	blood:	n/a
27	chr5:36151301-36151351	T-47D	breast:	n/a
28	chr5:36151301-36151351	GM12892	blood:	n/a
29	chr5:36151301-36151351	AG10803	skin:	n/a
30	chr5:36151301-36151351	AG04450	lung:	fetal
31	chr5:36151301-36151351	HNPCEpiC	eye:	n/a
32	chr5:36151301-36151351	NHDF-neo	bronchial:	n/a
33	chr5:36151301-36151351	RPTEC	kidney:	n/a
34	chr5:36151301-36151351	HRCEpiC	kidney:	n/a
35	chr5:36151301-36151351	CMK	blood:	n/a
36	chr5:36151301-36151351	Hela-S3	cervix:	n/a
37	chr5:36151301-36151351	NB4	blood:	n/a
38	chr5:36151301-36151351	HCM	heart:	n/a
39	chr5:36151301-36151351	HRPEpiC	eye:	n/a
40	chr5:36151301-36151351	PFSK-1	brain:	n/a
41	chr5:36151301-36151351	Caco-2	colon:	n/a
42	chr5:36151301-36151351	BJ	skin:	n/a
43	chr5:36151301-36151351	HRE	kidney:	n/a
44	chr5:36151301-36151351	H1-hESC	embryonic stem cell:	embryo
45	chr5:36151301-36151351	HUVEC	blood vessel:	n/a
46	chr5:36151301-36151351	GM12878	blood:	n/a
47	chr5:36151301-36151351	U87	brain:	n/a
48	chr5:36151301-36151351	NH-A	brain:	n/a
49	chr5:36151301-36151351	GM06990	blood:	n/a
50	chr5:36151301-36151351	HMEC	breast:	n/a

(count:16 , 50 per page) page: 1

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	chr20:30195147..30195668-chr5:36150864..36151392,2	Hela-S3	cervix:
11	chr5:36141299..36144114-chr5:36149805..36153077,4	K562	blood:
12	chr5:36114529..36117143-chr5:36150539..36152194,3	K562	blood:
13	chr3:12705150..12706149-chr5:36150915..36151544,2	Hela-S3	cervix:
14	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:
15	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
16	chr5:36149758..36152986-chr5:36154099..36157491,3	MCF-7	breast:

No data

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

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10461961	1.00[AFR][1000 genomes]
rs10461962	1.00[AFR][1000 genomes]
rs10461964	1.00[AFR][1000 genomes]
rs10461965	1.00[AFR][1000 genomes]
rs10512642	1.00[AFR][1000 genomes]
rs10512648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10941274	0.95[ASN][1000 genomes]
rs10941282	1.00[AFR][1000 genomes]
rs10941283	1.00[AFR][1000 genomes]
rs10941284	1.00[AFR][1000 genomes]
rs12054662	1.00[AFR][1000 genomes]
rs12054682	1.00[AFR][1000 genomes]
rs12054958	1.00[AFR][1000 genomes]
rs12055219	1.00[AFR][1000 genomes]
rs12652746	1.00[AFR][1000 genomes]
rs12654720	1.00[AFR][1000 genomes]
rs12655033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12655052	0.95[ASN][1000 genomes]
rs12655301	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12656102	1.00[AFR][1000 genomes]
rs12657110	1.00[AFR][1000 genomes]
rs12657634	0.95[ASN][1000 genomes]
rs12658779	1.00[AFR][1000 genomes]
rs1364013	1.00[AFR][1000 genomes]
rs1364014	1.00[AFR][1000 genomes]
rs1364015	1.00[AFR][1000 genomes]
rs16902727	0.89[ASN][1000 genomes]
rs16902793	1.00[AFR][1000 genomes]
rs16902797	1.00[AFR][1000 genomes]
rs16902801	1.00[AFR][1000 genomes]
rs16902812	1.00[AFR][1000 genomes]
rs16902813	1.00[AFR][1000 genomes]
rs16902827	1.00[AFR][1000 genomes]
rs16902836	1.00[AFR][1000 genomes]
rs16902845	1.00[AFR][1000 genomes]
rs16902871	1.00[AFR][1000 genomes]
rs2270909	0.91[ASN][1000 genomes]
rs267786	0.80[ASN][1000 genomes]
rs267790	0.80[ASN][1000 genomes]
rs28362653	0.95[ASN][1000 genomes]
rs35071851	0.89[ASN][1000 genomes]
rs35708472	0.92[ASN][1000 genomes]
rs3849785	1.00[AFR][1000 genomes]
rs3849787	1.00[AFR][1000 genomes]
rs3900936	1.00[AFR][1000 genomes]
rs4869463	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4869465	0.89[ASN][1000 genomes]
rs4869470	1.00[AFR][1000 genomes]
rs4869471	1.00[AFR][1000 genomes]
rs4869472	1.00[AFR][1000 genomes]
rs4869624	1.00[AFR][1000 genomes]
rs4869627	1.00[AFR][1000 genomes]
rs4869628	1.00[AFR][1000 genomes]
rs4869629	1.00[AFR][1000 genomes]
rs4869630	1.00[AFR][1000 genomes]
rs4869633	1.00[AFR][1000 genomes]
rs4869637	1.00[AFR][1000 genomes]
rs71617744	0.95[ASN][1000 genomes]
rs878608	1.00[AFR][1000 genomes]
rs9637790	1.00[AFR][1000 genomes]
rs991034	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	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	chr5:36150600-36151400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr5:36150600-36151400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36150600-36151400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr5:36150600-36151400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:36150600-36151400	Flanking Active TSS	Dnd41	blood
10	chr5:36150600-36151400	Flanking Active TSS	HUVEC	blood vessel
11	chr5:36150600-36151400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:36150600-36151600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:36150600-36151600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:36150600-36151600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:36150600-36151600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:36150600-36151600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr5:36150600-36152800	Active TSS	Stomach Smooth Muscle	stomach
18	chr5:36150600-36153400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:36150600-36153600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:36150600-36154000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:36150800-36151400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr5:36150800-36151400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr5:36150800-36151400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:36150800-36151400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:36150800-36151400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr5:36150800-36151400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:36150800-36151400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr5:36150800-36151400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr5:36150800-36151400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:36150800-36151400	Flanking Active TSS	Liver	Liver
31	chr5:36150800-36151400	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr5:36150800-36151400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr5:36150800-36151400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr5:36150800-36151400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr5:36150800-36151400	Flanking Active TSS	Fetal Stomach	stomach
36	chr5:36150800-36151400	Flanking Active TSS	NH-A	brain
37	chr5:36150800-36151600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr5:36150800-36152800	Active TSS	Right Ventricle	heart
39	chr5:36150800-36153000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:36150800-36153000	Active TSS	Aorta	Aorta
41	chr5:36150800-36153200	Active TSS	Colonic Mucosa	Colon
42	chr5:36150800-36153400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:36150800-36153400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:36150800-36153400	Active TSS	Fetal Intestine Large	intestine
45	chr5:36150800-36153400	Active TSS	Fetal Thymus	thymus
46	chr5:36150800-36153400	Active TSS	NHDF-Ad	bronchial
47	chr5:36150800-36153600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:36150800-36153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:36150800-36153600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:36150800-36153600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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