Variant report

Variant	rs4668353
Chromosome Location	chr2:171813881-171813882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171784111..171787003-chr2:171812346..171814407,4	K562	blood:
2	chr2:171789845..171791695-chr2:171813662..171815924,2	K562	blood:
3	chr2:171813561..171816045-chr2:171817049..171819064,3	K562	blood:
4	chr2:171803223..171808100-chr2:171810438..171814178,5	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1035839	0.93[EUR][1000 genomes]
rs13017649	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13028361	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2676139	0.93[EUR][1000 genomes]
rs2676143	0.91[EUR][1000 genomes]
rs2676145	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2676158	0.89[EUR][1000 genomes]
rs2723253	0.95[EUR][1000 genomes]
rs4668356	0.98[EUR][1000 genomes]
rs4668359	0.81[AFR][1000 genomes]
rs6711510	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6743095	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753513	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7586044	0.81[AFR][1000 genomes]
rs7608813	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs966181	0.93[EUR][1000 genomes]
rs999837	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
2	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:171803600-171824600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:171803800-171824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:171803800-171825600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:171804000-171825000	Strong transcription	HepG2	liver
7	chr2:171804600-171817400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:171804800-171824800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:171805000-171817400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:171805000-171819600	Strong transcription	K562	blood
12	chr2:171805000-171824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:171805000-171825000	Strong transcription	Dnd41	blood
14	chr2:171805200-171824800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:171805400-171814000	Strong transcription	HUVEC	blood vessel
16	chr2:171805400-171814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:171805400-171816400	Strong transcription	NHEK	skin
18	chr2:171805400-171824600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:171805400-171825000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:171805400-171825200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:171805400-171825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:171805400-171825600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:171805600-171814600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:171805600-171815200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:171805600-171816600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:171805600-171817400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:171805600-171821800	Strong transcription	HSMM	muscle
30	chr2:171805600-171824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:171805600-171824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:171805600-171825800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:171805800-171818400	Strong transcription	Adipose Nuclei	Adipose
34	chr2:171805800-171821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:171805800-171823800	Strong transcription	NHDF-Ad	bronchial
36	chr2:171805800-171825200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:171805800-171825800	Strong transcription	Placenta	Placenta
38	chr2:171805800-171825800	Strong transcription	Osteobl	bone
39	chr2:171805800-171826200	Strong transcription	Fetal Thymus	thymus
40	chr2:171806000-171814600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:171806000-171814800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:171806000-171814800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:171806000-171814800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:171806000-171815000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr2:171806000-171815000	Strong transcription	Colonic Mucosa	Colon
46	chr2:171806000-171816000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:171806000-171816000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:171806000-171816200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:171806000-171821200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:171806000-171821600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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