Variant report

Variant	rs13419200
Chromosome Location	chr2:182758257-182758258
allele	A/C
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	SMC3	chr2:182755798-182758535	Hela-S3	cervix:	n/a	chr2:182756507-182756517 chr2:182757161-182757171
2	CEBPB	chr2:182757091-182758465	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr2:182756801-182758309	HepG2	liver:	n/a	n/a
4	TBP	chr2:182756856-182758310	Hela-S3	cervix:	n/a	n/a
5	FOS	chr2:182757838-182758428	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr2:182756021-182758522	HEK293-T-REx	kidney:	n/a	chr2:182756286-182756295 chr2:182756283-182756292 chr2:182756289-182756298
7	POLR2A	chr2:182755320-182759858	MCF-7	breast:	n/a	n/a
8	NFIC	chr2:182756641-182758311	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr2:182756908-182758474	Hela-S3	cervix:	n/a	chr2:182758377-182758392
10	POLR2A	chr2:182755449-182759467	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr2:182757997-182758472	HepG2	liver:	n/a	chr2:182758377-182758392
12	JUND	chr2:182755953-182758380	K562	blood:	n/a	chr2:182757280-182757290
13	POLR2A	chr2:182754463-182759997	HCT-116	colon:	n/a	n/a
14	RFX5	chr2:182755735-182758431	Hela-S3	cervix:	n/a	n/a
15	MAFF	chr2:182758139-182758433	K562	blood:	n/a	n/a
16	MAX	chr2:182755943-182758388	Hela-S3	cervix:	n/a	chr2:182756490-182756500 chr2:182756427-182756436
17	RAD21	chr2:182756960-182758337	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr2:182757870-182758432	IMR90	lung:	n/a	chr2:182758377-182758392
19	POLR2A	chr2:182757946-182758319	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr2:182757802-182758279	MCF10A-Er-Src	breast:	n/a	n/a
21	MAZ	chr2:182755603-182758308	IMR90	lung:	n/a	chr2:182756490-182756500 chr2:182756427-182756436
22	POLR2A	chr2:182755962-182758472	Hela-S3	cervix:	n/a	n/a
23	GATA3	chr2:182756838-182758714	SK-N-SH	brain:	n/a	n/a
24	MXI1	chr2:182755647-182758544	SK-N-SH	brain:	n/a	n/a
25	BRCA1	chr2:182756980-182758316	Hela-S3	cervix:	n/a	n/a
26	FOS	chr2:182757785-182758357	MCF10A-Er-Src	breast:	n/a	n/a
27	UBTF	chr2:182757964-182758543	K562	blood:	n/a	n/a
28	FOS	chr2:182757337-182758269	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr2:182755351-182762286	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:182755747-182758537	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr2:182756009-182758487	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr2:182756038-182758403	K562	blood:	n/a	n/a
33	SIN3AK20	chr2:182755584-182758520	HCT-116	colon:	n/a	n/a
34	ARID3A	chr2:182757246-182758288	K562	blood:	n/a	n/a
35	POLR2A	chr2:182755770-182758390	K562	blood:	n/a	n/a
36	POLR2A	chr2:182755472-182758740	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:182755301-182758820	K562	blood:	n/a	n/a
38	MAFK	chr2:182758228-182758518	HepG2	liver:	n/a	chr2:182758377-182758392
39	CUX1	chr2:182757208-182758621	K562	blood:	n/a	n/a
40	FOSL2	chr2:182757715-182758311	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:182757398..182762251-chr2:182784880..182789284,4	K562	blood:
2	chr2:182756746..182758830-chr2:183579706..183581743,2	K562	blood:
3	chr2:182755591..182758830-chr2:183579706..183582403,3	K562	blood:
4	chr2:182737389..182739177-chr2:182758131..182759849,2	MCF-7	breast:
5	chr2:182753988..182769660-chr2:182938612..182954194,58	MCF-7	breast:
6	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
7	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	TF binding region
ENSG00000138434	Chromatin interaction
ENSG00000265129	Chromatin interaction
ENSG00000077232	Chromatin interaction
ENSG00000221023	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2303553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73032696	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182755600-182758800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:182755800-182758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:182755800-182758400	Active TSS	Brain Angular Gyrus	brain
4	chr2:182755800-182758600	Active TSS	Fetal Kidney	kidney
5	chr2:182755800-182758800	Active TSS	Fetal Thymus	thymus
6	chr2:182755800-182758800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:182755800-182759000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:182755800-182759000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:182755800-182759000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr2:182755800-182759000	Active TSS	Fetal Muscle Leg	muscle
11	chr2:182755800-182759000	Active TSS	Psoas Muscle	Psoas
12	chr2:182755800-182759000	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:182755800-182759400	Active TSS	Thymus	Thymus
14	chr2:182755800-182759600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:182755800-182759600	Active TSS	Right Ventricle	heart
16	chr2:182755800-182759600	Active TSS	GM12878-XiMat	blood
17	chr2:182756000-182758400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:182756000-182758400	Active TSS	Brain Anterior Caudate	brain
19	chr2:182756000-182758400	Active TSS	Ovary	ovary
20	chr2:182756000-182758400	Active TSS	A549	lung
21	chr2:182756000-182759000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:182756000-182759000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:182756000-182759000	Active TSS	Fetal Intestine Large	intestine
24	chr2:182756000-182759000	Active TSS	Placenta	Placenta
25	chr2:182756000-182759000	Active TSS	NHDF-Ad	bronchial
26	chr2:182756000-182759600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:182756000-182759600	Active TSS	Fetal Stomach	stomach
28	chr2:182756000-182760200	Active TSS	Hela-S3	cervix
29	chr2:182756000-182760400	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:182756000-182760400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:182756000-182760400	Active TSS	NHLF	lung
32	chr2:182756000-182762200	Active TSS	Colonic Mucosa	Colon
33	chr2:182756200-182758400	Active TSS	HSMM	muscle
34	chr2:182756200-182758800	Active TSS	HMEC	breast
35	chr2:182756200-182759000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:182756200-182759000	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:182756200-182759000	Active TSS	K562	blood
38	chr2:182756200-182759000	Active TSS	NHEK	skin
39	chr2:182756200-182759200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:182756200-182759200	Active TSS	Stomach Mucosa	stomach
41	chr2:182756200-182759400	Active TSS	HSMMtube	muscle
42	chr2:182756200-182759600	Active TSS	Fetal Intestine Small	intestine
43	chr2:182756400-182758400	Active TSS	HUVEC	blood vessel
44	chr2:182756400-182759000	Active TSS	NH-A	brain
45	chr2:182756600-182758400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:182756600-182759400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr2:182756800-182758600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr2:182756800-182759400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:182757200-182758400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:182757200-182758400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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