Variant report

Variant	rs1044583
Chromosome Location	chr12:74934072-74934073
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	POLR2A	chr12:74931200-74936073	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:74933848-74934267	HepG2	liver:	n/a	n/a
3	MXI1	chr12:74930680-74934315	SK-N-SH	brain:	n/a	chr12:74932789-74932798
4	MAFF	chr12:74933753-74934165	K562	blood:	n/a	n/a
5	GTF2F1	chr12:74934026-74934234	K562	blood:	n/a	n/a
6	CUX1	chr12:74933797-74934313	K562	blood:	n/a	n/a
7	CTCF	chr12:74933940-74934090	HMF	breast:	n/a	chr12:74934022-74934038
8	POLR2A	chr12:74931110-74940575	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr12:74933877-74934098	GM12878	blood:	n/a	chr12:74934022-74934038
10	POLR2A	chr12:74931116-74935658	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr12:74934061-74934159	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:74934011-74934174	ProgFib	skin:	n/a	n/a
13	POLR2A	chr12:74931201-74935166	GM12878	blood:	n/a	n/a
14	CTCF	chr12:74933882-74934194	K562	blood:	n/a	chr12:74934022-74934038
15	WRNIP1	chr12:74931153-74935222	GM12878	blood:	n/a	n/a
16	MAFK	chr12:74933809-74934176	K562	blood:	n/a	n/a
17	POLR2A	chr12:74931269-74934114	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:74932372-74934585	K562	blood:	n/a	n/a
19	POLR2A	chr12:74933964-74934215	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr12:74933868-74934153	K562	blood:	n/a	n/a
21	POLR2A	chr12:74931126-74935588	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:74932912-74937655	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:74933933-74934516	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:74931035-74936789	IMR90	lung:	n/a	n/a
25	POLR2A	chr12:74934029-74934214	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:74932414-74936105	A549	lung:	n/a	n/a
27	POLR2A	chr12:74931091-74937173	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:
2	chr12:74934002..74935915-chr12:74937667..74942932,5	K562	blood:
3	chr12:74933499..74938752-chr12:74938991..74943644,10	K562	blood:
4	chr12:74929601..74933992-chr12:74933997..74938801,8	K562	blood:

Variant related genes	Relation type
ENSG00000257386	TF binding region
ENSG00000257386	Chromatin interaction
ENSG00000253719	Chromatin interaction
ENSG00000251138	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12809241	0.84[YRI][hapmap];0.89[AFR][1000 genomes]
rs12825946	0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1493835	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113748	0.89[AFR][1000 genomes]
rs17113750	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs2061579	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs2886509	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901881	0.91[ASN][1000 genomes]
rs4882643	0.83[AFR][1000 genomes]
rs60905363	0.84[AMR][1000 genomes]
rs67506065	0.88[AFR][1000 genomes]
rs7132047	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs725181	0.88[AFR][1000 genomes]
rs7295970	0.84[YRI][hapmap];0.89[AFR][1000 genomes]
rs7302952	0.85[EUR][1000 genomes]
rs73190463	0.90[ASN][1000 genomes]
rs7956416	0.85[EUR][1000 genomes]
rs7958966	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668146	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
6	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr12:74932000-74934400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr12:74932000-74934400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:74932000-74935000	Transcr. at gene 5' and 3'	Fetal Lung	lung
4	chr12:74932200-74934800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr12:74932200-74935200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:74932400-74934200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:74932400-74934200	Flanking Active TSS	Liver	Liver
8	chr12:74932400-74934200	Flanking Active TSS	Fetal Brain Male	brain
9	chr12:74932400-74934200	Flanking Active TSS	HUVEC	blood vessel
10	chr12:74932400-74934200	Transcr. at gene 5' and 3'	NHLF	lung
11	chr12:74932400-74934400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
12	chr12:74932400-74934600	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr12:74932400-74934800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:74932400-74934800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr12:74932400-74934800	Flanking Active TSS	Thymus	Thymus
16	chr12:74932400-74935000	Transcr. at gene 5' and 3'	A549	lung
17	chr12:74932400-74935200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:74932400-74935200	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr12:74932400-74935400	Transcr. at gene 5' and 3'	NHEK	skin
20	chr12:74932600-74934400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:74932600-74934400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:74932600-74934600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:74932600-74934600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:74932600-74934600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
25	chr12:74932600-74934800	Flanking Active TSS	Fetal Heart	heart
26	chr12:74932600-74934800	Enhancers	Spleen	Spleen
27	chr12:74932600-74935000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
28	chr12:74932600-74935000	Transcr. at gene 5' and 3'	K562	blood
29	chr12:74932600-74935200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:74932600-74935200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:74932600-74935600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:74932600-74935800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
33	chr12:74932800-74934200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:74932800-74934200	Enhancers	Ovary	ovary
35	chr12:74932800-74934200	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr12:74932800-74934200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
37	chr12:74932800-74934400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:74932800-74934400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
39	chr12:74932800-74934400	Enhancers	Small Intestine	intestine
40	chr12:74932800-74934600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:74932800-74934600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:74932800-74934600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:74932800-74934600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
44	chr12:74932800-74934600	Transcr. at gene 5' and 3'	Hela-S3	cervix
45	chr12:74932800-74934800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
47	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Osteobl	bone
49	chr12:74932800-74935000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:74932800-74935000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood

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