Variant report

Variant	rs4465730
Chromosome Location	chr2:20529108-20529109
allele	A/G
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	GATA2	chr2:20528782-20529150	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr2:20529063-20529164	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:20529072-20529140	HepG2	liver:	n/a	n/a
4	GATA3	chr2:20528878-20529137	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20527750..20530139-chr2:20537656..20539176,2	K562	blood:
2	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
3	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:
4	chr2:20528511..20530540-chr2:20530679..20532398,2	K562	blood:

Variant related genes	Relation type
PUM2	TF binding region
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1043419	1.00[ASN][1000 genomes]
rs11096656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096657	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2058553	0.92[ASN][1000 genomes]
rs2160071	0.92[ASN][1000 genomes]
rs4666300	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666384	0.85[ASN][1000 genomes]
rs4666385	0.88[ASN][1000 genomes]
rs62124605	0.92[ASN][1000 genomes]
rs62124607	0.85[ASN][1000 genomes]
rs6531227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531228	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531230	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719148	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596183	0.82[ASN][1000 genomes]
rs7606633	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917904	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs989982	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
2	chr2:20471800-20533800	Strong transcription	Dnd41	blood
3	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
5	chr2:20516800-20529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:20517800-20530000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:20518000-20529200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:20518200-20530200	Weak transcription	Spleen	Spleen
13	chr2:20518400-20530400	Weak transcription	Psoas Muscle	Psoas
14	chr2:20518600-20530200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:20519200-20530200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
17	chr2:20522600-20530400	Weak transcription	Left Ventricle	heart
18	chr2:20522600-20530600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:20522600-20532400	Weak transcription	Colonic Mucosa	Colon
20	chr2:20522800-20530600	Weak transcription	Fetal Brain Male	brain
21	chr2:20522800-20530800	Weak transcription	Fetal Heart	heart
22	chr2:20522800-20537400	Weak transcription	NHLF	lung
23	chr2:20523000-20530400	Weak transcription	Thymus	Thymus
24	chr2:20523000-20536000	Weak transcription	HMEC	breast
25	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:20523200-20533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:20523200-20536000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20523200-20536000	Weak transcription	Lung	lung
29	chr2:20523600-20537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:20524400-20546400	Weak transcription	NH-A	brain
31	chr2:20524800-20529600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:20524800-20529800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:20525000-20529400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:20525000-20530000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:20525200-20529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:20525200-20530000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:20525200-20530600	Weak transcription	Adipose Nuclei	Adipose
38	chr2:20525200-20530800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:20525800-20529200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:20525800-20529400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:20526000-20530000	Weak transcription	NHDF-Ad	bronchial
42	chr2:20526000-20530400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:20526000-20534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:20526200-20530000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:20526200-20530200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:20526400-20529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:20526400-20530400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:20526400-20532800	Weak transcription	K562	blood
50	chr2:20526400-20534200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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