Variant report

Variant	rs1056528
Chromosome Location	chr2:74376812-74376813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr2:74376661-74377444	PBDE	blood:	n/a	chr2:74377286-74377293 chr2:74377197-74377207 chr2:74377286-74377293 chr2:74377282-74377298 chr2:74377286-74377293 chr2:74377198-74377207
2	POLR2A	chr2:74374709-74376848	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:74374855-74381076	K562	blood:	n/a	n/a
4	POLR2A	chr2:74376338-74377271	PFSK-1	brain:	n/a	n/a
5	MTA3	chr2:74374178-74377005	GM12878	blood:	n/a	n/a
6	TEAD4	chr2:74376812-74377402	K562	blood:	n/a	n/a
7	POLR2A	chr2:74376562-74377180	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:74376160-74377034	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:74374775-74377103	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:74374386-74376981	GM12892	blood:	n/a	n/a
11	RFX5	chr2:74376742-74377055	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:74376329-74377185	GM12878	blood:	n/a	n/a
13	EP300	chr2:74376727-74377384	K562	blood:	n/a	n/a
14	POLR2A	chr2:74375722-74376961	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr2:74374246-74377069	SK-N-MC	brain:	n/a	n/a
16	RFX5	chr2:74376766-74377071	K562	blood:	n/a	n/a
17	POLR2A	chr2:74374512-74376834	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr2:74374848-74377062	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:74376212-74379622	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:74376783-74377426	GM12891	blood:	n/a	n/a
21	POLR2A	chr2:74376304-74376979	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74364875..74366698-chr2:74375403..74377505,2	MCF-7	breast:
2	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
3	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
4	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
5	chr2:74373555..74376913-chr2:74449791..74454753,5	K562	blood:
6	chr2:74152937..74154574-chr2:74375552..74378135,2	MCF-7	breast:
7	chr2:74372816..74377340-chr2:74403923..74407839,6	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-1	chr2:74375825-74377170	XLOC_001532
2	lnc-AC073263.1-1	chr2:74375834-74378011	XLOC_001532
3	lnc-AC073263.1-1	chr2:74375825-74377170	XLOC_001532
4	lnc-AC073263.1-1	chr2:74375825-74377188	ENSG00000225439.2
5	lnc-AC073263.1-1	chr2:74375825-74377115	ENSG00000225439.2
6	lnc-AC073263.1-2	chr2:74375825-74379516	NONHSAT071666
7	lnc-AC073263.1-2	chr2:74375825-74382164	NONHSAT071668
8	lnc-AC073263.1-2	chr2:74375825-74379516	NR_045634

No data

Variant related genes	Relation type
BOLA3	TF binding region
ENSG00000235499	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1095966	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1095967	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469365	0.82[EUR][1000 genomes]
rs1667600	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667610	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667627	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108163	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108165	0.82[EUR][1000 genomes]
rs4630794	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702465	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828852	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828860	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828861	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828875	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828887	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828891	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828893	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844169	0.86[EUR][1000 genomes]
rs860455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 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	chr2:74375400-74377200	Flanking Active TSS	K562	blood
2	chr2:74375600-74379000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:74375600-74380000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:74375600-74380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:74375600-74380400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:74375600-74381600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:74375600-74381600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:74375800-74377000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:74375800-74377800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:74375800-74377800	Weak transcription	A549	lung
11	chr2:74375800-74378200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:74375800-74378400	Weak transcription	Left Ventricle	heart
13	chr2:74375800-74378600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:74375800-74378600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:74375800-74378800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:74375800-74379400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:74375800-74379800	Weak transcription	Liver	Liver
18	chr2:74375800-74380000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:74375800-74380000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:74375800-74381400	Weak transcription	Hela-S3	cervix
21	chr2:74375800-74383400	Weak transcription	Psoas Muscle	Psoas
22	chr2:74375800-74391200	Weak transcription	Aorta	Aorta
23	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
24	chr2:74376000-74377400	Weak transcription	Fetal Thymus	thymus
25	chr2:74376000-74377600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:74376000-74377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:74376000-74377600	Weak transcription	GM12878-XiMat	blood
28	chr2:74376000-74377800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:74376000-74377800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:74376000-74377800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:74376000-74377800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:74376000-74377800	Weak transcription	Placenta	Placenta
33	chr2:74376000-74377800	Weak transcription	Lung	lung
34	chr2:74376000-74377800	Weak transcription	Ovary	ovary
35	chr2:74376000-74377800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:74376000-74377800	Weak transcription	Thymus	Thymus
37	chr2:74376000-74377800	Weak transcription	Dnd41	blood
38	chr2:74376000-74377800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:74376000-74377800	Weak transcription	NH-A	brain
40	chr2:74376000-74377800	Weak transcription	NHEK	skin
41	chr2:74376000-74378000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:74376000-74378400	Weak transcription	Primary B cells from cord blood	blood
43	chr2:74376000-74378600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:74376000-74378600	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:74376000-74379000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:74376000-74379400	Weak transcription	Adipose Nuclei	Adipose
47	chr2:74376000-74380000	Weak transcription	Fetal Intestine Large	intestine
48	chr2:74376000-74380000	Weak transcription	HSMMtube	muscle
49	chr2:74376000-74380200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:74376000-74380200	Weak transcription	Rectal Mucosa Donor 31	rectum

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