Variant report

Variant	rs11112373
Chromosome Location	chr12:105503708-105503709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:105503206-105504145	GM12878	blood:	n/a	n/a
2	STAT3	chr12:105503653-105503942	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:105503306-105503930	GM12892	blood:	n/a	n/a
4	BATF	chr12:105503595-105504110	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:105503555-105503861	HUVEC	blood vessel:	n/a	n/a
6	YY1	chr12:105503467-105503827	GM12878	blood:	n/a	n/a
7	YY1	chr12:105503448-105503844	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:105503442-105504015	GM12892	blood:	n/a	n/a
9	MYC	chr12:105503690-105503889	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:105503522-105503964	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr12:105503333-105503922	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:105503547-105503868	Hela-S3	cervix:	n/a	n/a
13	FOS	chr12:105502941-105504316	HUVEC	blood vessel:	n/a	chr12:105504009-105504016 chr12:105504011-105504019 chr12:105504009-105504021 chr12:105504007-105504018
14	POLR2A	chr12:105503467-105503853	K562	blood:	n/a	n/a
15	MXI1	chr12:105500112-105503958	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:105503226-105504020	HUVEC	blood vessel:	n/a	n/a
17	ETS1	chr12:105503485-105503896	GM12878	blood:	n/a	n/a
18	MTA3	chr12:105503277-105504043	GM12878	blood:	n/a	n/a
19	NFIC	chr12:105503391-105504232	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:105503425-105503843	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:105503395-105503983	GM12878	blood:	n/a	n/a
22	TBP	chr12:105503059-105504152	GM12878	blood:	n/a	n/a
23	EBF1	chr12:105503318-105503815	GM12878	blood:	n/a	n/a
24	WRNIP1	chr12:105503498-105503779	GM12878	blood:	n/a	n/a
25	EBF1	chr12:105503350-105503989	GM12878	blood:	n/a	n/a
26	FOS	chr12:105503592-105504205	MCF10A-Er-Src	breast:	n/a	chr12:105504009-105504016 chr12:105504011-105504019 chr12:105504009-105504021 chr12:105504007-105504018
27	POLR2A	chr12:105503357-105504053	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:105503037-105504043	HUVEC	blood vessel:	n/a	n/a
29	BCL11A	chr12:105503467-105503841	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:105503527-105503982	GM12891	blood:	n/a	n/a
31	PAX5	chr12:105503340-105503760	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:105503452-105503933	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:105503504-105503905	GM12891	blood:	n/a	n/a
34	POLR2A	chr12:105503451-105503975	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:105503402-105503987	GM12892	blood:	n/a	n/a
36	IRF4	chr12:105503473-105504012	GM12878	blood:	n/a	n/a
37	BATF	chr12:105503517-105504196	GM12878	blood:	n/a	n/a
38	CHD1	chr12:105503038-105504152	GM12878	blood:	n/a	n/a
39	STAT5A	chr12:105503375-105503928	GM12878	blood:	n/a	n/a
40	ZNF384	chr12:105503088-105504291	GM12878	blood:	n/a	n/a
41	FOXM1	chr12:105503350-105504138	GM12878	blood:	n/a	n/a
42	MXI1	chr12:105503322-105504143	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr12:105503371-105503975	GM12878	blood:	n/a	n/a
44	YY1	chr12:105503500-105503795	GM12891	blood:	n/a	n/a
45	ATF2	chr12:105503443-105504170	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:105503298-105504030	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:105502744-105504120	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr12:105503570-105504003	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:105503413-105503792	GM12878	blood:	n/a	n/a
50	ELF1	chr12:105503398-105503763	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:105503674-105503724	HRPEpiC	eye:	n/a
2	chr12:105503674-105503724	HNPCEpiC	eye:	n/a
3	chr12:105503674-105503724	GM06990	blood:	n/a
4	chr12:105503674-105503724	ECC-1	luminal epithelium:	n/a
5	chr12:105503674-105503724	CMK	blood:	n/a
6	chr12:105503674-105503724	AoSMC	blood vessel:	n/a
7	chr12:105503674-105503724	HEK293	kidney:	embryo
8	chr12:105503674-105503724	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:105503674-105503724	BJ	skin:	n/a
10	chr12:105503674-105503724	H1-hESC	embryonic stem cell:	embryo
11	chr12:105503674-105503724	SK-N-SH_RA	brain:	n/a
12	chr12:105503674-105503724	BE2_C	brain:	n/a
13	chr12:105503674-105503724	HEEpiC	esophagus:	n/a
14	chr12:105503674-105503724	A549	lung:	n/a
15	chr12:105503674-105503724	HRE	kidney:	n/a
16	chr12:105503674-105503724	NHDF-neo	bronchial:	n/a
17	chr12:105503674-105503724	NHBE	bronchial:	n/a
18	chr12:105503674-105503724	ProgFib	skin:	n/a
19	chr12:105503674-105503724	GM12878	blood:	n/a
20	chr12:105503674-105503724	HRCEpiC	kidney:	n/a
21	chr12:105503674-105503724	NT2-D1	testis:	n/a
22	chr12:105503674-105503724	HCF	heart:	n/a
23	chr12:105503674-105503724	Hepatocyte	liver:	n/a
24	chr12:105503674-105503724	GM19239	blood:	n/a
25	chr12:105503674-105503724	PANC-1	pancreas:	n/a
26	chr12:105503674-105503724	PrEC	prostate:	n/a
27	chr12:105503674-105503724	AG09319	gingival:	n/a
28	chr12:105503674-105503724	RPTEC	kidney:	n/a
29	chr12:105503674-105503724	SKMC	muscle:	n/a
30	chr12:105503674-105503724	AG04450	lung:	fetal
31	chr12:105503674-105503724	IMR90	lung:	fetal
32	chr12:105503674-105503724	Hela-S3	cervix:	n/a
33	chr12:105503674-105503724	K562	blood:	n/a
34	chr12:105503674-105503724	NH-A	brain:	n/a
35	chr12:105503674-105503724	MCF10A-Er-Src	breast:	n/a
36	chr12:105503674-105503724	HAEpiC	amniotic membrane:	n/a
37	chr12:105503674-105503724	SK-N-SH	brain:	n/a
38	chr12:105503674-105503724	HL-60	blood:	n/a
39	chr12:105503674-105503724	AG04449	skin:	fetal
40	chr12:105503674-105503724	SK-N-MC	brain:	n/a
41	chr12:105503674-105503724	HIPEpiC	eye:	n/a
42	chr12:105503674-105503724	LNCaP	prostate:	n/a
43	chr12:105503674-105503724	GM12892	blood:	n/a
44	chr12:105503674-105503724	AG09309	skin:	n/a
45	chr12:105503674-105503724	U87	brain:	n/a
46	chr12:105503674-105503724	Jurkat	blood:	n/a
47	chr12:105503674-105503724	ovcar-3	ovarian:	n/a
48	chr12:105503674-105503724	HCPEpiC	choroid plexus:	n/a
49	chr12:105503674-105503724	HCT-116	colon:	n/a
50	chr12:105503674-105503724	SAEC	small airway:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105492565..105494732-chr12:105503331..105505612,2	K562	blood:
2	chr12:105502740..105505259-chr12:105518776..105521182,3	K562	blood:
3	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
4	chr12:105501229..105503953-chr12:105621352..105624637,3	MCF-7	breast:
5	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:
6	chr12:105502302..105504240-chr12:105518371..105521182,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257999	TF binding region
ENSG00000257999	CpG island
ENSG00000136010	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10459207	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1076	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10778370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1078420	1.00[CEU][hapmap]
rs10861337	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861342	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861346	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10861350	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861353	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861354	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861355	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861356	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861357	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861358	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10861360	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112359	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112366	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112368	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112371	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112378	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112380	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112383	0.94[ASN][1000 genomes]
rs11112386	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112390	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112393	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112394	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112396	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112397	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112398	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112403	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112413	0.95[EUR][1000 genomes]
rs11112418	0.91[EUR][1000 genomes]
rs11112422	0.91[EUR][1000 genomes]
rs12227605	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229846	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12303948	1.00[CEU][hapmap]
rs12309135	1.00[CEU][hapmap]
rs12315366	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12316054	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12318799	1.00[CEU][hapmap]
rs12320123	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320722	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12322134	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1345095	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1444608	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1663563	0.92[ASN][1000 genomes]
rs17036781	1.00[CEU][hapmap]
rs2044307	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2888841	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34705618	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3794232	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3829297	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3910855	1.00[CEU][hapmap]
rs61506525	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs703683	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7136344	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305712	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73395802	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488014	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7960452	0.82[EUR][1000 genomes]
rs7966106	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7968711	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9634185	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105500200-105504000	Active TSS	Brain Anterior Caudate	brain
2	chr12:105500400-105503800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:105500400-105504600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:105500400-105505000	Active TSS	K562	blood
5	chr12:105500600-105503800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:105500600-105503800	Active TSS	Colonic Mucosa	Colon
7	chr12:105500600-105503800	Active TSS	HSMMtube	muscle
8	chr12:105500600-105504200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:105500800-105503800	Active TSS	A549	lung
10	chr12:105500800-105504000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:105500800-105504400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:105500800-105504800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:105501000-105505600	Active TSS	GM12878-XiMat	blood
14	chr12:105501200-105503800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:105501200-105504800	Active TSS	NHLF	lung
16	chr12:105502000-105504000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:105502000-105505000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:105502200-105504000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:105502200-105504200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr12:105502200-105504200	Flanking Active TSS	Dnd41	blood
21	chr12:105502200-105504600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:105502200-105505400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:105502400-105504000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:105502400-105504400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:105502600-105503800	Enhancers	Fetal Heart	heart
27	chr12:105502600-105504000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr12:105502600-105504400	Flanking Active TSS	NH-A	brain
29	chr12:105502600-105504600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr12:105502600-105505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:105502800-105503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:105502800-105503800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:105502800-105503800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:105502800-105504000	Flanking Active TSS	NHEK	skin
35	chr12:105502800-105504200	Flanking Active TSS	Osteobl	bone
36	chr12:105502800-105505000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr12:105502800-105505800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
39	chr12:105503000-105503800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:105503000-105503800	Enhancers	Fetal Muscle Trunk	muscle
41	chr12:105503000-105503800	Enhancers	Fetal Muscle Leg	muscle
42	chr12:105503000-105503800	Enhancers	Fetal Stomach	stomach
43	chr12:105503000-105504000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:105503000-105504000	Enhancers	Brain Germinal Matrix	brain
45	chr12:105503000-105504000	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:105503000-105504000	Flanking Active TSS	Fetal Kidney	kidney
47	chr12:105503000-105504200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:105503000-105504400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:105503000-105505800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach

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