Variant report

Variant	rs28360467
Chromosome Location	chr12:121648132-121648133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:363)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr12:121647421-121648519	K562	blood:	n/a	n/a
2	RCOR1	chr12:121647596-121648930	K562	blood:	n/a	n/a
3	HDAC2	chr12:121647594-121648341	HepG2	liver:	n/a	n/a
4	RCOR1	chr12:121647697-121648205	GM12878	blood:	n/a	n/a
5	GABPA	chr12:121647850-121648166	H1-hESC	embryonic stem cell:	n/a	chr12:121647953-121647962
6	TCF7L2	chr12:121647564-121648215	HCT-116	colon:	n/a	n/a
7	CHD2	chr12:121647843-121648167	HepG2	liver:	n/a	n/a
8	TAL1	chr12:121647754-121648201	K562	blood:	n/a	n/a
9	MAX	chr12:121647747-121648466	MCF-7	breast:	n/a	chr12:121648179-121648190
10	POLR2A	chr12:121647578-121648253	PFSK-1	brain:	n/a	n/a
11	GABPA	chr12:121647579-121648307	K562	blood:	n/a	chr12:121647953-121647962
12	TAF1	chr12:121647637-121648152	A549	lung:	n/a	n/a
13	RAD21	chr12:121647669-121648381	IMR90	lung:	n/a	n/a
14	ELF1	chr12:121647590-121648373	GM12878	blood:	n/a	n/a
15	ATF1	chr12:121647676-121648237	K562	blood:	n/a	chr12:121648086-121648100
16	POLR2A	chr12:121647607-121648402	HUVEC	blood vessel:	n/a	n/a
17	E2F6	chr12:121647583-121648584	A549	lung:	n/a	chr12:121647956-121647965
18	ELF1	chr12:121647666-121648289	K562	blood:	n/a	n/a
19	POLR2A	chr12:121647696-121648406	HL-60	blood:	n/a	n/a
20	CEBPB	chr12:121648038-121648478	H1-hESC	embryonic stem cell:	n/a	n/a
21	MTA3	chr12:121647771-121648204	GM12878	blood:	n/a	n/a
22	RCOR1	chr12:121647811-121648459	Hela-S3	cervix:	n/a	n/a
23	YY1	chr12:121647576-121648266	GM12878	blood:	n/a	chr12:121647875-121647884 chr12:121647956-121647965 chr12:121647876-121647890 chr12:121647953-121647967
24	HA-E2F1	chr12:121647717-121648518	MCF-7	breast:	n/a	chr12:121647956-121647965
25	CEBPB	chr12:121648125-121648551	ECC-1	luminal epithelium:	n/a	n/a
26	YY1	chr12:121647576-121648545	GM12892	blood:	n/a	chr12:121647875-121647884 chr12:121647956-121647965 chr12:121647876-121647890 chr12:121647953-121647967
27	POLR2A	chr12:121647422-121648716	HepG2	liver:	n/a	n/a
28	SIN3A	chr12:121647583-121648302	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:121647717-121648364	Raji	blood:	n/a	n/a
30	CHD1	chr12:121648118-121648163	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:121648020-121648170	GM12866	blood:	n/a	n/a
32	MXI1	chr12:121647765-121648413	HepG2	liver:	n/a	n/a
33	BHLHE40	chr12:121647633-121648407	K562	blood:	n/a	n/a
34	TAF1	chr12:121647807-121648168	GM12891	blood:	n/a	n/a
35	CBX3	chr12:121647381-121648621	K562	blood:	n/a	n/a
36	POLR2A	chr12:121647800-121648321	Hela-S3	cervix:	n/a	n/a
37	E2F4	chr12:121647761-121648516	MCF10A-Er-Src	breast:	n/a	chr12:121647956-121647965
38	PML	chr12:121647590-121648369	GM12878	blood:	n/a	n/a
39	PBX3	chr12:121647720-121648179	A549	lung:	n/a	n/a
40	CEBPB	chr12:121648066-121648601	A549	lung:	n/a	n/a
41	CTCF	chr12:121647366-121649096	A549	lung:	n/a	chr12:121647877-121647890
42	POLR2A	chr12:121647672-121648391	MCF-7	breast:	n/a	n/a
43	FOS	chr12:121647915-121648409	MCF10A-Er-Src	breast:	n/a	n/a
44	MXI1	chr12:121647198-121648795	SK-N-SH	brain:	n/a	n/a
45	TAF1	chr12:121647622-121648216	K562	blood:	n/a	n/a
46	E2F4	chr12:121647676-121648274	K562	blood:	n/a	chr12:121647956-121647965
47	SMC3	chr12:121647683-121648464	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:121647340-121648349	HCT-116	colon:	n/a	n/a
49	MYC	chr12:121647628-121648494	K562	blood:	n/a	chr12:121648179-121648190
50	RAD21	chr12:121647573-121648218	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121648093-121648143	IMR90	lung:	fetal
2	chr12:121648093-121648143	HNPCEpiC	eye:	n/a
3	chr12:121648093-121648143	Hela-S3	cervix:	n/a
4	chr12:121648093-121648143	HUVEC	blood vessel:	n/a
5	chr12:121648093-121648143	ovcar-3	ovarian:	n/a
6	chr12:121648093-121648143	SKMC	muscle:	n/a
7	chr12:121648093-121648143	ECC-1	luminal epithelium:	n/a
8	chr12:121648093-121648143	PrEC	prostate:	n/a
9	chr12:121648093-121648143	NHBE	bronchial:	n/a
10	chr12:121648093-121648143	GM12892	blood:	n/a
11	chr12:121648093-121648143	RPTEC	kidney:	n/a
12	chr12:121648093-121648143	HMEC	breast:	n/a
13	chr12:121648093-121648143	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:121648093-121648143	Jurkat	blood:	n/a
15	chr12:121648093-121648143	NT2-D1	testis:	n/a
16	chr12:121648093-121648143	HRPEpiC	eye:	n/a
17	chr12:121648093-121648143	U87	brain:	n/a
18	chr12:121648093-121648143	Caco-2	colon:	n/a
19	chr12:121648093-121648143	AG09309	skin:	n/a
20	chr12:121648093-121648143	HCPEpiC	choroid plexus:	n/a
21	chr12:121648093-121648143	GM19239	blood:	n/a
22	chr12:121648093-121648143	SK-N-MC	brain:	n/a
23	chr12:121648093-121648143	MCF10A-Er-Src	breast:	n/a
24	chr12:121648093-121648143	K562	blood:	n/a
25	chr12:121648093-121648143	BJ	skin:	n/a
26	chr12:121648093-121648143	HepG2	liver:	n/a
27	chr12:121648093-121648143	NHDF-neo	bronchial:	n/a
28	chr12:121648093-121648143	SK-N-SH	brain:	n/a
29	chr12:121648093-121648143	HRE	kidney:	n/a
30	chr12:121648093-121648143	AG09319	gingival:	n/a
31	chr12:121648093-121648143	HCM	heart:	n/a
32	chr12:121648093-121648143	AG04450	lung:	fetal
33	chr12:121648093-121648143	HAEpiC	amniotic membrane:	n/a
34	chr12:121648093-121648143	CMK	blood:	n/a
35	chr12:121648093-121648143	Hepatocyte	liver:	n/a
36	chr12:121648093-121648143	H1-hESC	embryonic stem cell:	embryo
37	chr12:121648093-121648143	PANC-1	pancreas:	n/a
38	chr12:121648093-121648143	HL-60	blood:	n/a
39	chr12:121648093-121648143	LNCaP	prostate:	n/a
40	chr12:121648093-121648143	SK-N-SH_RA	brain:	n/a
41	chr12:121648093-121648143	T-47D	breast:	n/a
42	chr12:121648093-121648143	MCF-7	breast:	n/a
43	chr12:121648093-121648143	ProgFib	skin:	n/a
44	chr12:121648093-121648143	HRCEpiC	kidney:	n/a
45	chr12:121648093-121648143	HEEpiC	esophagus:	n/a
46	chr12:121648093-121648143	GM12891	blood:	n/a
47	chr12:121648093-121648143	BE2_C	brain:	n/a
48	chr12:121648093-121648143	NH-A	brain:	n/a
49	chr12:121648093-121648143	AG10803	skin:	n/a
50	chr12:121648093-121648143	SAEC	small airway:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121647374..121649635-chr12:121733730..121735639,2	K562	blood:
2	chr12:121647374..121649276-chr12:121733272..121735230,2	K562	blood:
3	chr12:121521510..121523846-chr12:121648119..121649813,2	MCF-7	breast:
4	chr12:121646473..121649457-chr12:121658577..121662737,5	MCF-7	breast:
5	chr12:121569906..121572539-chr12:121647803..121649868,2	MCF-7	breast:
6	chr12:121646670..121649250-chr12:121789949..121791934,2	K562	blood:
7	chr12:120965472..120968197-chr12:121646463..121648820,2	K562	blood:
8	chr12:121646675..121648577-chr16:89007038..89009106,2	MCF-7	breast:
9	chr12:121452592..121454438-chr12:121647839..121649379,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX4	TF binding region
P2RX4	CpG island
ENSG00000110931	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction
ENSG00000157895	Chromatin interaction
ENSG00000129993	Chromatin interaction
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28360458	1.00[ASN][1000 genomes]
rs34325588	1.00[ASN][1000 genomes]
rs61953403	1.00[ASN][1000 genomes]
rs73214162	1.00[ASN][1000 genomes]
rs73214163	1.00[ASN][1000 genomes]
rs73214191	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28360467	P2RX4	cis	Artery Tibial	GTEx
rs28360467	P2RX4	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121647000-121648400	Enhancers	Fetal Brain Male	brain
2	chr12:121647000-121648400	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:121647000-121648600	Active TSS	Primary T cells from cord blood	blood
4	chr12:121647000-121648600	Active TSS	Brain Substantia Nigra	brain
5	chr12:121647200-121648400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121647200-121648400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:121647200-121648400	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:121647200-121648400	Active TSS	Fetal Brain Female	brain
9	chr12:121647200-121648400	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:121647200-121648600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:121647200-121648600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:121647200-121648600	Active TSS	Brain Angular Gyrus	brain
13	chr12:121647200-121648600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:121647200-121648600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:121647200-121648600	Active TSS	A549	lung
16	chr12:121647200-121648600	Active TSS	Hela-S3	cervix
17	chr12:121647200-121648600	Active TSS	NHDF-Ad	bronchial
18	chr12:121647200-121649000	Active TSS	Small Intestine	intestine
19	chr12:121647200-121649400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:121647200-121649400	Active TSS	Colonic Mucosa	Colon
21	chr12:121647400-121648200	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:121647400-121648200	Active TSS	Primary B cells from cord blood	blood
23	chr12:121647400-121648200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:121647400-121648400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:121647400-121648400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:121647400-121648400	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:121647400-121648400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:121647400-121648400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:121647400-121648400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:121647400-121648400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:121647400-121648400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:121647400-121648400	Active TSS	Brain Germinal Matrix	brain
33	chr12:121647400-121648400	Active TSS	Fetal Lung	lung
34	chr12:121647400-121648400	Active TSS	Fetal Stomach	stomach
35	chr12:121647400-121648400	Active TSS	HepG2	liver
36	chr12:121647400-121648400	Active TSS	Osteobl	bone
37	chr12:121647400-121648600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:121647400-121648600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:121647400-121648600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:121647400-121648600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:121647400-121648600	Active TSS	Brain Anterior Caudate	brain
42	chr12:121647400-121648600	Active TSS	Brain Hippocampus Middle	brain
43	chr12:121647400-121648600	Active TSS	Thymus	Thymus
44	chr12:121647400-121648600	Active TSS	GM12878-XiMat	blood
45	chr12:121647400-121648800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr12:121647400-121648800	Active TSS	Pancreas	Pancrea
47	chr12:121647400-121649000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:121647400-121649000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:121647400-121649000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:121647400-121649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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