Variant report

Variant	rs72617181
Chromosome Location	chr2:233630175-233630176
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	TCF7L2	chr2:233629846-233630260	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHD1-3	chr2:233630002-233630348	NONHSAT077446

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12619228	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12623408	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241979	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2289912	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72617178	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72617179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72617180	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72617182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72617183	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617184	0.80[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	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
4	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
5	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
7	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:233609200-233630800	Strong transcription	HepG2	liver
9	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:233612000-233631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:233612000-233634000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:233612000-233634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:233612200-233633800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:233612200-233634000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:233612200-233634400	Strong transcription	Fetal Thymus	thymus
18	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
19	chr2:233612600-233637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:233613800-233635600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:233614000-233636800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:233614400-233632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
24	chr2:233617000-233636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:233618600-233635600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:233620200-233640000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:233621400-233632400	Weak transcription	K562	blood
28	chr2:233621400-233644400	Strong transcription	Liver	Liver
29	chr2:233622400-233635600	Weak transcription	Esophagus	oesophagus
30	chr2:233623000-233632600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:233623400-233630800	Strong transcription	Left Ventricle	heart
32	chr2:233623400-233631400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:233623400-233632400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:233623400-233633800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:233623600-233636800	Strong transcription	Fetal Intestine Large	intestine
36	chr2:233623800-233631400	Strong transcription	Dnd41	blood
37	chr2:233623800-233634200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:233624400-233630400	Strong transcription	HSMM	muscle
39	chr2:233624400-233630800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:233624400-233634000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:233624400-233640000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:233624600-233630800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:233624800-233631000	Strong transcription	Osteobl	bone
44	chr2:233624800-233634000	Strong transcription	Adipose Nuclei	Adipose
45	chr2:233624800-233640000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:233625000-233630400	Strong transcription	NHDF-Ad	bronchial
47	chr2:233625000-233630600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:233625000-233630800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:233625000-233631200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:233625000-233633400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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