Variant report

Variant	rs4251968
Chromosome Location	chr2:113875217-113875218
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	MAX	chr2:113875052-113875441	K562	blood:	n/a	n/a
2	MAX	chr2:113874868-113875649	MCF-7	breast:	n/a	n/a
3	HDAC2	chr2:113875141-113875596	MCF-7	breast:	n/a	chr2:113875294-113875303
4	MAX	chr2:113874988-113875627	ECC-1	luminal epithelium:	n/a	n/a
5	FOS	chr2:113874989-113875516	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
6	E2F4	chr2:113875089-113875413	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr2:113874991-113875705	ECC-1	luminal epithelium:	n/a	chr2:113875352-113875368
8	STAT3	chr2:113874966-113875564	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr2:113874985-113875537	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr2:113875037-113875627	MCF-7	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
11	FOS	chr2:113875093-113875509	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
12	POLR2A	chr2:113875077-113876185	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:113875075-113875509	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
14	ZNF217	chr2:113875138-113875574	MCF-7	breast:	n/a	n/a
15	EGR1	chr2:113875116-113875674	MCF-7	breast:	n/a	n/a
16	USF1	chr2:113875056-113875497	ECC-1	luminal epithelium:	n/a	n/a
17	MYC	chr2:113875074-113875499	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr2:113875162-113875491	K562	blood:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
19	EP300	chr2:113875083-113875605	MCF-7	breast:	n/a	n/a
20	GATA1	chr2:113874927-113876326	PBDE	blood:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113876195-113876204 chr2:113875293-113875302 chr2:113876018-113876034 chr2:113875295-113875302
21	E2F6	chr2:113875152-113875371	K562	blood:	n/a	n/a
22	MYC	chr2:113875195-113875461	MCF-7	breast:	n/a	n/a
23	GATA3	chr2:113875154-113875525	T-47D	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
24	MAX	chr2:113875160-113875444	K562	blood:	n/a	n/a
25	MAX	chr2:113875109-113875355	K562	blood:	n/a	n/a
26	MAX	chr2:113875005-113875670	MCF-7	breast:	n/a	n/a
27	NFIC	chr2:113875007-113875680	ECC-1	luminal epithelium:	n/a	chr2:113875352-113875368
28	FOS	chr2:113875049-113875535	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
29	MAX	chr2:113875032-113875589	ECC-1	luminal epithelium:	n/a	n/a
30	STAT3	chr2:113874985-113875514	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr2:113874974-113875503	MCF10A-Er-Src	breast:	n/a	n/a
32	MAZ	chr2:113875208-113875492	K562	blood:	n/a	n/a
33	MYC	chr2:113875074-113875554	MCF10A-Er-Src	breast:	n/a	n/a
34	BHLHE40	chr2:113875070-113875507	K562	blood:	n/a	n/a
35	GATA3	chr2:113874901-113875843	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
36	GATA3	chr2:113875058-113875700	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
37	GATA3	chr2:113875120-113875456	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
38	POLR2A	chr2:113875030-113876317	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113874258..113877773-chr2:113883397..113886122,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1RN-1	chr2:113875114-113875242	NONHSAT073741

Variant related genes	Relation type
IL1RN	TF binding region
ENSG00000136689	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11677397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs128964	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794065	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1794067	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1794068	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2234676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853628	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs315933	0.81[EUR][1000 genomes]
rs315936	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs392503	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs408392	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs419598	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs423904	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4251967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251974	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251975	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251976	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251977	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251978	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251979	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431726	0.89[EUR][1000 genomes]
rs432014	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs434792	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs440286	0.80[AMR][1000 genomes]
rs442710	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs444413	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs446433	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs447713	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs448341	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs451578	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs454078	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs495282	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs495410	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs598859	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs878972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv979338	chr2:113869830-113880320	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874895	chr2:113870663-113875892	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv874896	chr2:113874122-113875892	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:113871400-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113871600-113875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113871800-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113872600-113875600	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:113873000-113875400	Enhancers	Stomach Mucosa	stomach
7	chr2:113873000-113875600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:113873000-113875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:113873200-113875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:113873200-113875400	Enhancers	Spleen	Spleen
11	chr2:113873200-113876000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:113873400-113875600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:113873600-113875400	Weak transcription	Placenta	Placenta
14	chr2:113873600-113876000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:113873600-113876000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:113874000-113875600	Enhancers	HMEC	breast
17	chr2:113874200-113876000	Enhancers	NHDF-Ad	bronchial
18	chr2:113874200-113877200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:113874400-113875600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:113874400-113875800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:113874400-113875800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:113874400-113877000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:113874600-113875800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:113874600-113876000	Enhancers	K562	blood
25	chr2:113874600-113877600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:113874600-113878400	Weak transcription	GM12878-XiMat	blood
27	chr2:113874800-113875400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:113874800-113875400	Weak transcription	Gastric	stomach
29	chr2:113874800-113875600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:113874800-113875600	Enhancers	Osteobl	bone
31	chr2:113874800-113875800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:113874800-113875800	Enhancers	NH-A	brain
33	chr2:113874800-113878800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:113875000-113875800	Enhancers	Lung	lung
35	chr2:113875000-113877000	Weak transcription	Small Intestine	intestine
36	chr2:113875000-113878600	Active TSS	Esophagus	oesophagus
37	chr2:113875200-113875400	Enhancers	NHEK	skin
38	chr2:113875200-113875600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:113875200-113875800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:113875200-113875800	Enhancers	Fetal Brain Male	brain

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