Variant report

Variant	rs11893358
Chromosome Location	chr2:233636922-233636923
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	MAFF	chr2:233636613-233636951	HepG2	liver:	n/a	chr2:233636771-233636789

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233627729..233630145-chr2:233636237..233639208,2	K562	blood:
2	chr2:233635753..233637631-chr2:233640086..233642797,2	K562	blood:

Variant related genes	Relation type
GIGYF2	TF binding region
KCNJ13	TF binding region
ENSG00000241409	TF binding region
ENSG00000115474	Chromatin interaction
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10210953	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1022329	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10427328	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1078323	0.80[EUR][1000 genomes]
rs10933406	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1104764	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688166	0.82[EUR][1000 genomes]
rs11689851	0.82[EUR][1000 genomes]
rs12105766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12619195	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12993791	0.81[EUR][1000 genomes]
rs12999865	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13001052	0.80[EUR][1000 genomes]
rs17164	0.84[EUR][1000 genomes]
rs1973675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293780	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2344611	0.83[EUR][1000 genomes]
rs2344613	0.84[EUR][1000 genomes]
rs2592104	0.86[EUR][1000 genomes]
rs2675972	0.81[EUR][1000 genomes]
rs283470	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283487	0.88[EUR][1000 genomes]
rs35491427	0.81[EUR][1000 genomes]
rs62193269	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62193271	0.82[EUR][1000 genomes]
rs6704763	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710294	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6716488	0.84[EUR][1000 genomes]
rs6717048	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733495	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739794	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737027	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974321	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
8	chr2:233612600-233637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
10	chr2:233620200-233640000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:233621400-233644400	Strong transcription	Liver	Liver
12	chr2:233624400-233640000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:233624800-233640000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:233625200-233637600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:233626200-233637600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:233627800-233645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:233628600-233644200	Weak transcription	Ovary	ovary
18	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
20	chr2:233629400-233639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:233629400-233642000	Weak transcription	Gastric	stomach
22	chr2:233629400-233644200	Weak transcription	Right Ventricle	heart
23	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
24	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:233630800-233641000	Weak transcription	Fetal Kidney	kidney
28	chr2:233630800-233641200	Weak transcription	Brain Anterior Caudate	brain
29	chr2:233631000-233637400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
31	chr2:233632000-233639600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:233632200-233640000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:233632400-233637200	Strong transcription	HepG2	liver
34	chr2:233632600-233637600	Strong transcription	NHEK	skin
35	chr2:233632800-233637600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:233633400-233638800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:233633400-233641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
39	chr2:233633600-233637000	Weak transcription	NHDF-Ad	bronchial
40	chr2:233633600-233638600	Weak transcription	Fetal Brain Female	brain
41	chr2:233633600-233638600	Weak transcription	Stomach Mucosa	stomach
42	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
43	chr2:233634000-233640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:233634000-233641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:233634000-233643400	Weak transcription	Fetal Heart	heart
46	chr2:233634600-233637600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:233634600-233638400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:233634800-233640000	Strong transcription	HSMM	muscle
49	chr2:233635000-233637600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:233635400-233638000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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