Variant report

Variant	rs183659403
Chromosome Location	chr2:113380073-113380074
allele	A/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	FOS	chr2:113380031-113380462	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:113379459-113380478	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:113380000-113380316	Hela-S3	cervix:	n/a	n/a
4	E2F4	chr2:113379770-113380401	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr2:113379984-113380446	Hela-S3	cervix:	n/a	n/a
6	JUN	chr2:113379953-113380563	K562	blood:	n/a	n/a
7	CEBPD	chr2:113379999-113380423	K562	blood:	n/a	n/a
8	MAX	chr2:113379970-113380438	Hela-S3	cervix:	n/a	n/a
9	EP300	chr2:113379937-113380381	SK-N-SH_RA	brain:	n/a	chr2:113380363-113380377
10	NFIC	chr2:113379895-113380486	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr2:113379892-113380485	K562	blood:	n/a	n/a
12	GATA2	chr2:113380039-113380371	K562	blood:	n/a	n/a
13	TEAD4	chr2:113379686-113380534	SK-N-SH	brain:	n/a	n/a
14	STAT3	chr2:113379476-113380493	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
15	CEBPD	chr2:113380010-113380533	K562	blood:	n/a	n/a
16	GATA3	chr2:113379917-113380662	SK-N-SH	brain:	n/a	n/a
17	RAD21	chr2:113380050-113380353	Hela-S3	cervix:	n/a	n/a
18	STAT3	chr2:113379949-113380456	Hela-S3	cervix:	n/a	chr2:113380429-113380436
19	TEAD4	chr2:113380025-113380430	K562	blood:	n/a	n/a
20	POLR2A	chr2:113380019-113380400	U87	brain:	n/a	n/a
21	GATA1	chr2:113379692-113380566	K562	blood:	n/a	n/a
22	CEBPB	chr2:113380063-113380565	A549	lung:	n/a	chr2:113380319-113380330
23	PBX3	chr2:113379856-113380633	SK-N-SH	brain:	n/a	n/a
24	MAX	chr2:113379937-113380400	SK-N-SH	brain:	n/a	n/a
25	EP300	chr2:113379984-113380487	Hela-S3	cervix:	n/a	chr2:113380363-113380377
26	RCOR1	chr2:113379975-113380417	K562	blood:	n/a	n/a
27	FOSL2	chr2:113379859-113380450	SK-N-SH	brain:	n/a	n/a
28	JUND	chr2:113379914-113380489	SK-N-SH	brain:	n/a	n/a
29	JUND	chr2:113380005-113380443	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:113379906-113380360	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr2:113379969-113380428	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr2:113380042-113380370	SK-N-SH_RA	brain:	n/a	n/a
33	GATA1	chr2:113380024-113380462	PBDE	blood:	n/a	n/a
34	FOS	chr2:113379535-113380460	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr2:113380004-113380400	K562	blood:	n/a	n/a
36	JUND	chr2:113379876-113380536	SK-N-SH	brain:	n/a	n/a
37	MYC	chr2:113379501-113380478	MCF10A-Er-Src	breast:	n/a	n/a
38	NFIC	chr2:113379274-113380652	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr2:113380023-113380470	SK-N-SH	brain:	n/a	n/a
40	SMC3	chr2:113380059-113380416	Hela-S3	cervix:	n/a	n/a
41	CCNT2	chr2:113379990-113380381	K562	blood:	n/a	n/a
42	CEBPB	chr2:113380012-113380505	IMR90	lung:	n/a	chr2:113380319-113380330
43	STAT3	chr2:113379479-113380522	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
44	CEBPB	chr2:113380008-113380508	Hela-S3	cervix:	n/a	chr2:113380319-113380330
45	JUND	chr2:113380044-113380432	K562	blood:	n/a	n/a
46	GTF2F1	chr2:113379814-113380359	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:113379667-113380365	MCF10A-Er-Src	breast:	n/a	n/a
48	TEAD4	chr2:113379941-113380615	SK-N-SH	brain:	n/a	n/a
49	STAT3	chr2:113379532-113380455	MCF10A-Er-Src	breast:	n/a	chr2:113380429-113380436
50	EP300	chr2:113379817-113380650	SK-N-SH	brain:	n/a	chr2:113380363-113380377

No.	Distal block	Cell Line	Cell type
1	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
2	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
3	chr2:113344897..113346779-chr2:113377975..113380310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231747	TF binding region
ENSG00000237753	Chromatin interaction
ENSG00000243389	Chromatin interaction
ENSG00000144136	Chromatin interaction

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

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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv963705	chr2:113379400-113381483	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
4	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
7	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:113372400-113388600	Weak transcription	Gastric	stomach
10	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:113373000-113383200	Weak transcription	Fetal Brain Female	brain
12	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:113377400-113384200	Weak transcription	Right Atrium	heart
14	chr2:113378200-113382000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:113378400-113382200	Enhancers	HMEC	breast
16	chr2:113378600-113380200	Enhancers	NHDF-Ad	bronchial
17	chr2:113378600-113380400	Enhancers	NHLF	lung
18	chr2:113378600-113381600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113378800-113382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:113378800-113384000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:113379200-113380200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:113379400-113380200	Flanking Active TSS	NHEK	skin
23	chr2:113379600-113380200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:113379600-113380200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:113379600-113380200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:113379600-113380200	Enhancers	A549	lung
27	chr2:113379600-113380200	Flanking Active TSS	NH-A	brain
28	chr2:113379600-113380200	Flanking Active TSS	Osteobl	bone
29	chr2:113379600-113380400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:113379800-113380200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:113379800-113380200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:113379800-113380200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:113379800-113380200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:113379800-113380200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:113379800-113380200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:113379800-113380200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:113379800-113380200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:113379800-113380200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:113379800-113380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:113379800-113380200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:113379800-113380200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:113379800-113380200	Enhancers	Placenta	Placenta
43	chr2:113379800-113380400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:113379800-113380400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:113379800-113380400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:113379800-113380600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:113379800-113380600	Enhancers	K562	blood
48	chr2:113379800-113384200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:113380000-113380200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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