Variant report

Variant	rs60287587
Chromosome Location	chr12:42632911-42632912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr12:42632893-42633093	K562	blood:	n/a	n/a
2	MAX	chr12:42631035-42632996	A549	lung:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
3	CHD2	chr12:42631140-42632927	Hela-S3	cervix:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
4	POLR2A	chr12:42632802-42632920	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT5A	chr12:42632201-42633036	GM12878	blood:	n/a	n/a
6	REST	chr12:42630951-42632995	H1-neurons	neurons:	n/a	chr12:42632239-42632249 chr12:42631278-42631291 chr12:42631854-42631867
7	POLR2A	chr12:42631157-42633000	GM19099	blood:	n/a	n/a
8	GTF2F1	chr12:42632331-42632934	Hela-S3	cervix:	n/a	n/a
9	TBP	chr12:42631080-42633012	K562	blood:	n/a	n/a
10	MXI1	chr12:42630820-42633569	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:42631079-42633464	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:42631123-42633242	GM12878	blood:	n/a	n/a
13	TCF7L2	chr12:42631110-42632955	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr12:42630358-42633508	Hela-S3	cervix:	n/a	n/a
15	WRNIP1	chr12:42632425-42633195	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:42631831-42632944	SK-N-MC	brain:	n/a	n/a
17	MAZ	chr12:42631138-42633219	K562	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
18	TCF7L2	chr12:42631882-42633292	HEK293	kidney:	n/a	n/a
19	CHD1	chr12:42630487-42632928	IMR90	lung:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
20	MYC	chr12:42631121-42632989	K562	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
21	CUX1	chr12:42632608-42632916	K562	blood:	n/a	n/a
22	BHLHE40	chr12:42631841-42632958	K562	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
23	NR2F2	chr12:42632381-42633017	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42632907-42632957	NT2-D1	testis:	n/a
2	chr12:42632907-42632957	AoSMC	blood vessel:	n/a
3	chr12:42632907-42632957	MCF-7	breast:	n/a
4	chr12:42632907-42632957	GM06990	blood:	n/a
5	chr12:42632907-42632957	HIPEpiC	eye:	n/a
6	chr12:42632907-42632957	PANC-1	pancreas:	n/a
7	chr12:42632907-42632957	HAEpiC	amniotic membrane:	n/a
8	chr12:42632907-42632957	Jurkat	blood:	n/a
9	chr12:42632907-42632957	IMR90	lung:	fetal
10	chr12:42632907-42632957	ECC-1	luminal epithelium:	n/a
11	chr12:42632907-42632957	Caco-2	colon:	n/a
12	chr12:42632907-42632957	GM12892	blood:	n/a
13	chr12:42632907-42632957	NB4	blood:	n/a
14	chr12:42632907-42632957	SK-N-SH_RA	brain:	n/a
15	chr12:42632907-42632957	GM12891	blood:	n/a
16	chr12:42632907-42632957	HNPCEpiC	eye:	n/a
17	chr12:42632907-42632957	CMK	blood:	n/a
18	chr12:42632907-42632957	SK-N-MC	brain:	n/a
19	chr12:42632907-42632957	SKMC	muscle:	n/a
20	chr12:42632907-42632957	GM19239	blood:	n/a
21	chr12:42632907-42632957	LNCaP	prostate:	n/a
22	chr12:42632907-42632957	HRCEpiC	kidney:	n/a
23	chr12:42632907-42632957	HL-60	blood:	n/a
24	chr12:42632907-42632957	BE2_C	brain:	n/a
25	chr12:42632907-42632957	BJ	skin:	n/a
26	chr12:42632907-42632957	K562	blood:	n/a
27	chr12:42632907-42632957	HepG2	liver:	n/a
28	chr12:42632907-42632957	MCF10A-Er-Src	breast:	n/a
29	chr12:42632907-42632957	AG09319	gingival:	n/a
30	chr12:42632907-42632957	PFSK-1	brain:	n/a
31	chr12:42632907-42632957	A549	lung:	n/a
32	chr12:42632907-42632957	PrEC	prostate:	n/a
33	chr12:42632907-42632957	HCPEpiC	choroid plexus:	n/a
34	chr12:42632907-42632957	HCT-116	colon:	n/a
35	chr12:42632907-42632957	SAEC	small airway:	n/a
36	chr12:42632907-42632957	GM12878	blood:	n/a
37	chr12:42632907-42632957	NHBE	bronchial:	n/a
38	chr12:42632907-42632957	SK-N-SH	brain:	n/a
39	chr12:42632907-42632957	Hepatocyte	liver:	n/a
40	chr12:42632907-42632957	AG04449	skin:	fetal
41	chr12:42632907-42632957	ProgFib	skin:	n/a
42	chr12:42632907-42632957	NH-A	brain:	n/a
43	chr12:42632907-42632957	AG04450	lung:	fetal
44	chr12:42632907-42632957	HEEpiC	esophagus:	n/a
45	chr12:42632907-42632957	NHDF-neo	bronchial:	n/a
46	chr12:42632907-42632957	HRE	kidney:	n/a
47	chr12:42632907-42632957	Hela-S3	cervix:	n/a
48	chr12:42632907-42632957	HCM	heart:	n/a
49	chr12:42632907-42632957	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:42632907-42632957	HCF	heart:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
3	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
4	chr1:115322980..115323593-chr12:42632513..42633232,2	MCF-7	breast:
5	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
6	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
7	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
8	chr12:42631475..42633841-chr12:42740722..42742775,2	K562	blood:
9	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
10	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
11	chr12:42631690..42633240-chr12:42634536..42637417,2	MCF-7	breast:
12	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL10P	TF binding region
YAF2	TF binding region
YAF2	CpG island
RN7SL10P	CpG island
ENSG00000151233	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000252917	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000052723	Chromatin interaction
ENSG00000241710	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139095	0.83[ASN][1000 genomes]
rs11830387	0.83[ASN][1000 genomes]
rs11832838	0.83[ASN][1000 genomes]
rs12297206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12300188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317772	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318401	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091061	0.85[ASN][1000 genomes]
rs17091083	0.83[ASN][1000 genomes]
rs17091094	0.83[ASN][1000 genomes]
rs17091138	0.83[ASN][1000 genomes]
rs17091141	0.83[ASN][1000 genomes]
rs17091163	0.83[ASN][1000 genomes]
rs17091193	0.83[ASN][1000 genomes]
rs1962526	0.83[ASN][1000 genomes]
rs1987127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305423	0.83[ASN][1000 genomes]
rs2406566	1.00[EUR][1000 genomes]
rs2406676	0.83[ASN][1000 genomes]
rs2406677	0.83[ASN][1000 genomes]
rs3747559	0.85[ASN][1000 genomes]
rs3911246	0.83[ASN][1000 genomes]
rs57447201	0.83[ASN][1000 genomes]
rs58594062	0.83[ASN][1000 genomes]
rs59501472	0.83[ASN][1000 genomes]
rs59876649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60092940	0.88[ASN][1000 genomes]
rs60278477	1.00[EUR][1000 genomes]
rs60598518	0.83[ASN][1000 genomes]
rs60659836	0.83[ASN][1000 genomes]
rs60870773	1.00[EUR][1000 genomes]
rs61647009	1.00[EUR][1000 genomes]
rs73114487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114498	1.00[EUR][1000 genomes]
rs73116429	1.00[EUR][1000 genomes]
rs73116432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73116441	1.00[EUR][1000 genomes]
rs73116492	0.85[ASN][1000 genomes]
rs73118486	0.83[ASN][1000 genomes]
rs73120476	0.83[ASN][1000 genomes]
rs73120499	0.83[ASN][1000 genomes]
rs73124406	0.83[ASN][1000 genomes]
rs73126404	0.83[ASN][1000 genomes]
rs73126407	0.83[ASN][1000 genomes]
rs73126412	0.83[ASN][1000 genomes]
rs73126433	0.80[ASN][1000 genomes]
rs73127416	1.00[EUR][1000 genomes]
rs73127418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73127428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73127435	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73127445	1.00[EUR][1000 genomes]
rs73131138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131166	1.00[EUR][1000 genomes]
rs7961228	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3324521	chr12:42630510-42633558	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	esv3414520	chr12:42630935-42633283	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:42630600-42633000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:42630600-42633200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:42630600-42633200	Active TSS	Brain Anterior Caudate	brain
5	chr12:42630600-42633200	Active TSS	NHDF-Ad	bronchial
6	chr12:42630800-42633000	Active TSS	Fetal Intestine Small	intestine
7	chr12:42630800-42633000	Active TSS	HSMM	muscle
8	chr12:42631000-42633000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:42631000-42633000	Active TSS	Aorta	Aorta
10	chr12:42631000-42633000	Active TSS	Thymus	Thymus
11	chr12:42631200-42633000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:42631200-42633000	Active TSS	Duodenum Mucosa	Duodenum
13	chr12:42631200-42633400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:42632400-42633000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr12:42632400-42633000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:42632400-42633000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr12:42632400-42633000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:42632400-42633000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:42632400-42633000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:42632400-42633000	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:42632400-42633000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr12:42632400-42633000	Flanking Active TSS	HUVEC	blood vessel
23	chr12:42632400-42633000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:42632400-42633000	Flanking Active TSS	NHLF	lung
25	chr12:42632400-42633200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:42632400-42633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:42632400-42633200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr12:42632400-42633200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:42632400-42633400	Flanking Active TSS	Dnd41	blood
30	chr12:42632600-42633000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr12:42632600-42633000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr12:42632600-42633000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr12:42632600-42633000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:42632600-42633000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:42632600-42633000	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr12:42632600-42633000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:42632600-42633000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr12:42632600-42633000	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:42632600-42633000	Flanking Active TSS	Fetal Heart	heart
40	chr12:42632600-42633000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr12:42632600-42633000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:42632600-42633000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr12:42632600-42633000	Enhancers	Small Intestine	intestine
44	chr12:42632600-42633000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:42632600-42633000	Flanking Active TSS	NHEK	skin
46	chr12:42632600-42633200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr12:42632600-42633200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:42632600-42633200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:42632600-42633200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:42632600-42633200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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