Variant report

Variant	rs36215117
Chromosome Location	chr2:113874082-113874083
allele	C/T
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	SPI1	chr2:113873835-113874324	HL-60	blood:	n/a	chr2:113874015-113874028 chr2:113874017-113874026
2	RELA	chr2:113873803-113874365	GM10847	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
3	EBF1	chr2:113873789-113874376	GM12878	blood:	n/a	chr2:113874030-113874041
4	TBL1XR1	chr2:113873837-113874279	GM12878	blood:	n/a	n/a
5	RUNX3	chr2:113873616-113874379	GM12878	blood:	n/a	n/a
6	NFIC	chr2:113873820-113874275	GM12878	blood:	n/a	n/a
7	FOXM1	chr2:113873776-113874130	GM12878	blood:	n/a	n/a
8	STAT3	chr2:113873698-113874111	MCF10A-Er-Src	breast:	n/a	chr2:113873927-113873935
9	RELA	chr2:113873749-113874419	GM19099	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
10	PAX5	chr2:113873906-113874232	GM12891	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
11	ATF2	chr2:113873800-113874120	GM12878	blood:	n/a	n/a
12	MTA3	chr2:113873550-113874160	GM12878	blood:	n/a	n/a
13	ETS1	chr2:113873816-113874235	GM12878	blood:	n/a	chr2:113874018-113874027 chr2:113874019-113874030 chr2:113874018-113874032
14	SPI1	chr2:113873898-113874122	GM12878	blood:	n/a	chr2:113874015-113874028 chr2:113874017-113874026
15	PAX5	chr2:113873916-113874163	GM12892	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
16	ELF1	chr2:113873759-113874214	GM12878	blood:	n/a	chr2:113874015-113874026 chr2:113874179-113874190
17	RELA	chr2:113873702-113874528	GM18951	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
18	EGR1	chr2:113873923-113874152	GM12878	blood:	n/a	chr2:113874018-113874027
19	PAX5	chr2:113873845-113874230	GM12878	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
20	SPI1	chr2:113873859-113874162	GM12891	blood:	n/a	chr2:113874015-113874028 chr2:113874017-113874026
21	RELA	chr2:113873655-113874214	GM15510	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
22	RUNX3	chr2:113873643-113874317	GM12878	blood:	n/a	n/a
23	RELA	chr2:113873825-113874306	GM12892	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
24	SPI1	chr2:113873708-113874424	GM12878	blood:	n/a	chr2:113874015-113874028 chr2:113874325-113874332 chr2:113874017-113874026
25	EBF1	chr2:113873642-113874300	GM12878	blood:	n/a	chr2:113874030-113874041
26	PAX5	chr2:113873711-113874303	GM12878	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
27	PAX5	chr2:113873943-113874174	GM12878	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
28	RELA	chr2:113873750-113874222	GM19193	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
29	SP1	chr2:113873796-113874198	GM12878	blood:	n/a	chr2:113874074-113874086 chr2:113874067-113874079 chr2:113874071-113874085 chr2:113874068-113874077 chr2:113874074-113874086 chr2:113874107-113874119 chr2:113874075-113874085 chr2:113874103-113874112 chr2:113874069-113874078 chr2:113874108-113874118 chr2:113874067-113874079 chr2:113874075-113874084 chr2:113874108-113874122
30	STAT3	chr2:113873757-113874096	MCF10A-Er-Src	breast:	n/a	chr2:113873927-113873935
31	ELF1	chr2:113873733-113874200	GM12878	blood:	n/a	chr2:113874015-113874026 chr2:113874179-113874190
32	PAX5	chr2:113873915-113874158	GM12891	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
33	EGR1	chr2:113873927-113874182	GM12878	blood:	n/a	chr2:113874018-113874027
34	RELA	chr2:113873597-113874444	GM12891	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
35	ATF2	chr2:113873777-113874112	GM12878	blood:	n/a	n/a
36	RELA	chr2:113873577-113874372	GM12878	blood:	n/a	chr2:113874083-113874092 chr2:113874083-113874092
37	NFIC	chr2:113873712-113874298	GM12878	blood:	n/a	n/a
38	EBF1	chr2:113873829-113874147	GM12878	blood:	n/a	chr2:113874030-113874041
39	PAX5	chr2:113873928-113874266	GM12892	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
40	PAX5	chr2:113873907-113874269	GM12878	blood:	n/a	chr2:113874055-113874073 chr2:113874056-113874075 chr2:113874054-113874073 chr2:113874018-113874027
41	MAZ	chr2:113873907-113874233	GM12878	blood:	n/a	chr2:113874108-113874118

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113874068-113874118	NHDF-neo	bronchial:	n/a
2	chr2:113874068-113874118	HCM	heart:	n/a
3	chr2:113874068-113874118	H1-hESC	embryonic stem cell:	embryo
4	chr2:113874068-113874118	NHBE	bronchial:	n/a
5	chr2:113874068-113874118	HCPEpiC	choroid plexus:	n/a
6	chr2:113874068-113874118	Hela-S3	cervix:	n/a
7	chr2:113874068-113874118	CMK	blood:	n/a
8	chr2:113874068-113874118	SKMC	muscle:	n/a
9	chr2:113874068-113874118	SK-N-MC	brain:	n/a
10	chr2:113874068-113874118	ovcar-3	ovarian:	n/a
11	chr2:113874068-113874118	HRE	kidney:	n/a
12	chr2:113874068-113874118	AG09319	gingival:	n/a
13	chr2:113874068-113874118	AG09309	skin:	n/a
14	chr2:113874068-113874118	GM12892	blood:	n/a
15	chr2:113874068-113874118	BJ	skin:	n/a
16	chr2:113874068-113874118	HRPEpiC	eye:	n/a
17	chr2:113874068-113874118	PFSK-1	brain:	n/a
18	chr2:113874068-113874118	HepG2	liver:	n/a
19	chr2:113874068-113874118	Hepatocyte	liver:	n/a
20	chr2:113874068-113874118	HAEpiC	amniotic membrane:	n/a
21	chr2:113874068-113874118	HUVEC	blood vessel:	n/a
22	chr2:113874068-113874118	AoSMC	blood vessel:	n/a
23	chr2:113874068-113874118	SK-N-SH_RA	brain:	n/a
24	chr2:113874068-113874118	AG04449	skin:	fetal
25	chr2:113874068-113874118	K562	blood:	n/a
26	chr2:113874068-113874118	GM06990	blood:	n/a
27	chr2:113874068-113874118	HRCEpiC	kidney:	n/a
28	chr2:113874068-113874118	MCF-7	breast:	n/a
29	chr2:113874068-113874118	HL-60	blood:	n/a
30	chr2:113874068-113874118	ProgFib	skin:	n/a
31	chr2:113874068-113874118	MCF10A-Er-Src	breast:	n/a
32	chr2:113874068-113874118	PrEC	prostate:	n/a
33	chr2:113874068-113874118	IMR90	lung:	fetal
34	chr2:113874068-113874118	AG10803	skin:	n/a
35	chr2:113874068-113874118	NT2-D1	testis:	n/a
36	chr2:113874068-113874118	GM19239	blood:	n/a
37	chr2:113874068-113874118	RPTEC	kidney:	n/a
38	chr2:113874068-113874118	SAEC	small airway:	n/a
39	chr2:113874068-113874118	Caco-2	colon:	n/a
40	chr2:113874068-113874118	NH-A	brain:	n/a
41	chr2:113874068-113874118	U87	brain:	n/a
42	chr2:113874068-113874118	SK-N-SH	brain:	n/a
43	chr2:113874068-113874118	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:113874068-113874118	HEK293	kidney:	embryo
45	chr2:113874068-113874118	HEEpiC	esophagus:	n/a
46	chr2:113874068-113874118	GM12891	blood:	n/a
47	chr2:113874068-113874118	HMEC	breast:	n/a
48	chr2:113874068-113874118	NB4	blood:	n/a
49	chr2:113874068-113874118	AG04450	lung:	fetal
50	chr2:113874068-113874118	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:

Variant related genes	Relation type
IL1RN	TF binding region
IL1RN	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13394857	1.00[AMR][1000 genomes]
rs4252015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45445391	1.00[AMR][1000 genomes]
rs45447495	1.00[AMR][1000 genomes]
rs45540547	1.00[AMR][1000 genomes]
rs6718817	1.00[AMR][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	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:113871400-113874800	Enhancers	NHEK	skin
3	chr2:113871400-113875000	Bivalent Enhancer	HepG2	liver
4	chr2:113871400-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113871600-113874600	Weak transcription	Gastric	stomach
6	chr2:113871600-113875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113871800-113874600	Enhancers	GM12878-XiMat	blood
8	chr2:113871800-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113872600-113875600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:113872800-113874800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:113872800-113875000	Enhancers	Primary T cells from cord blood	blood
12	chr2:113872800-113875000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:113873000-113874400	Enhancers	Esophagus	oesophagus
14	chr2:113873000-113874600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:113873000-113874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:113873000-113874800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:113873000-113874800	Enhancers	Fetal Thymus	thymus
18	chr2:113873000-113875200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:113873000-113875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:113873000-113875400	Enhancers	Stomach Mucosa	stomach
21	chr2:113873000-113875600	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:113873000-113875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:113873200-113874400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:113873200-113874600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr2:113873200-113874600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:113873200-113874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:113873200-113874800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:113873200-113874800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:113873200-113875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:113873200-113875400	Enhancers	Spleen	Spleen
31	chr2:113873200-113876000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:113873400-113874400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:113873400-113874400	Enhancers	Thymus	Thymus
34	chr2:113873400-113874400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:113873400-113874600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:113873400-113874800	Enhancers	Primary B cells from cord blood	blood
37	chr2:113873400-113875000	Weak transcription	Lung	lung
38	chr2:113873400-113875600	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:113873600-113874200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:113873600-113874400	Enhancers	Adipose Nuclei	Adipose
41	chr2:113873600-113874400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:113873600-113875400	Weak transcription	Placenta	Placenta
43	chr2:113873600-113876000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:113873600-113876000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:113873800-113874200	Weak transcription	NHDF-Ad	bronchial
46	chr2:113874000-113874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:113874000-113874200	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:113874000-113875600	Enhancers	HMEC	breast

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