Variant report

Variant	rs59984376
Chromosome Location	chr2:37903112-37903113
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	FOSL1	chr2:37903090-37903905	HCT-116	colon:	n/a	chr2:37903624-37903632 chr2:37903578-37903590 chr2:37903580-37903588 chr2:37903625-37903632 chr2:37903581-37903588 chr2:37903580-37903589 chr2:37903576-37903587 chr2:37903103-37903112 chr2:37903579-37903589
2	NFIC	chr2:37903072-37903929	SK-N-SH	brain:	n/a	n/a
3	SRF	chr2:37902996-37903920	HCT-116	colon:	n/a	n/a
4	SP1	chr2:37903086-37903994	HCT-116	colon:	n/a	n/a
5	NFIC	chr2:37902954-37903866	ECC-1	luminal epithelium:	n/a	chr2:37903065-37903082 chr2:37903066-37903082
6	PBX3	chr2:37902992-37903922	SK-N-SH	brain:	n/a	n/a
7	JUND	chr2:37902239-37904320	SK-N-SH	brain:	n/a	chr2:37903624-37903632 chr2:37903578-37903590 chr2:37903580-37903588 chr2:37903625-37903632 chr2:37903581-37903588 chr2:37903578-37903589 chr2:37903580-37903589 chr2:37903576-37903587 chr2:37903103-37903112 chr2:37904122-37904131 chr2:37903579-37903589
8	NFIC	chr2:37903000-37903871	ECC-1	luminal epithelium:	n/a	chr2:37903065-37903082 chr2:37903066-37903082

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37901542..37903159-chr2:37919185..37920897,2	K562	blood:

Variant related genes	Relation type
CDC42EP3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11124597	0.82[ASN][1000 genomes]
rs12469780	1.00[AFR][1000 genomes]
rs12615921	0.90[ASN][1000 genomes]
rs17523989	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240985	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4670758	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4670760	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61233180	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs729793	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309014	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37899800-37906800	Weak transcription	Gastric	stomach
2	chr2:37900200-37903200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37900200-37903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:37900200-37904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:37900200-37905000	Weak transcription	Lung	lung
6	chr2:37900200-37905000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:37900200-37916000	Weak transcription	Psoas Muscle	Psoas
8	chr2:37900400-37903200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:37900400-37903200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:37900400-37903200	Weak transcription	Osteobl	bone
11	chr2:37900400-37903400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:37900400-37903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:37900400-37903400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:37900400-37903800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:37900400-37903800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:37900400-37905000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:37900400-37905200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:37900400-37905200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:37900400-37906800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:37900400-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:37901400-37903200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:37901400-37903800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:37901400-37903800	Enhancers	Fetal Stomach	stomach
24	chr2:37901400-37904000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:37901400-37904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:37901400-37904400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:37901400-37905000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:37901600-37904600	Weak transcription	Esophagus	oesophagus
29	chr2:37901800-37904000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:37902000-37903800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:37902000-37904000	Enhancers	A549	lung
32	chr2:37902000-37904400	Enhancers	HMEC	breast
33	chr2:37902000-37904400	Enhancers	NHEK	skin
34	chr2:37902200-37903200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:37902200-37903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:37902400-37903400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37902400-37903600	Weak transcription	Fetal Heart	heart
38	chr2:37902400-37903600	Weak transcription	HSMMtube	muscle
39	chr2:37902400-37903800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:37902400-37904000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:37902400-37910600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:37902600-37904000	Enhancers	HSMM	muscle
43	chr2:37902600-37905200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:37902800-37903200	Weak transcription	K562	blood
45	chr2:37902800-37903800	Enhancers	Hela-S3	cervix
46	chr2:37902800-37903800	Enhancers	NHDF-Ad	bronchial
47	chr2:37902800-37904000	Enhancers	HUVEC	blood vessel
48	chr2:37902800-37904200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:37902800-37904200	Enhancers	NH-A	brain
50	chr2:37903000-37903400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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