Variant report

Variant	rs4928122
Chromosome Location	chr3:100001162-100001163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99982718..99984285-chr3:100000156..100002852,2	K562	blood:
2	chr3:99999857..100003392-chr3:100119076..100121679,3	K562	blood:

Variant related genes	Relation type
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10511178	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10936147	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11709240	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709563	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11710065	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228183	0.81[EUR][1000 genomes]
rs12629226	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12631115	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12633745	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12633821	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13072367	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13074365	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075241	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13078920	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13079423	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13079881	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098188	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16842060	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847139	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979540	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34314126	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34384409	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34700788	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34869521	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35141973	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35594119	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772694	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772696	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772697	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772701	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4263320	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4928115	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928121	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4928163	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4928165	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928168	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59233020	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61095099	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414385	0.84[ASN][1000 genomes]
rs66757043	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67403774	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762794	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6763680	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6764125	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6764957	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6765158	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772774	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6774538	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787142	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787301	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6791887	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794668	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808469	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68094410	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71313591	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611566	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7615300	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7625101	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][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	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
2	chr3:99980600-100053200	Weak transcription	Gastric	stomach
3	chr3:99981200-100004800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
5	chr3:99981400-100004400	Weak transcription	Lung	lung
6	chr3:99982400-100005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:99982800-100001400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:99983200-100010000	Weak transcription	Pancreas	Pancrea
9	chr3:99984200-100010000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:99984200-100011000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:99986600-100024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:99988800-100013800	Weak transcription	Fetal Brain Male	brain
13	chr3:99989000-100002000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:99989000-100005800	Weak transcription	Thymus	Thymus
15	chr3:99989000-100007600	Weak transcription	HUVEC	blood vessel
16	chr3:99989000-100025000	Weak transcription	Fetal Brain Female	brain
17	chr3:99990400-100005000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:99990400-100006000	Weak transcription	HSMMtube	muscle
19	chr3:99990600-100010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:99990600-100030600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:99990800-100001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:99990800-100021400	Weak transcription	Psoas Muscle	Psoas
23	chr3:99991000-100001600	Weak transcription	HMEC	breast
24	chr3:99991000-100006000	Weak transcription	Right Ventricle	heart
25	chr3:99992400-100017600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:99994200-100014200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:99994400-100001400	Weak transcription	Ovary	ovary
28	chr3:99994400-100007800	Weak transcription	Aorta	Aorta
29	chr3:99994400-100040800	Weak transcription	Esophagus	oesophagus
30	chr3:99995400-100019000	Weak transcription	Colonic Mucosa	Colon
31	chr3:99995800-100006000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:99996000-100012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:99996000-100052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:99996000-100053000	Weak transcription	Small Intestine	intestine
35	chr3:99996400-100004200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:99996400-100025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:99996600-100002000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:99996800-100002000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:99996800-100002400	Weak transcription	Brain Anterior Caudate	brain
40	chr3:99996800-100003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:99996800-100004800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:99996800-100010400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:99996800-100016800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:99997000-100001600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:99997000-100008400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:99997000-100008800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:99997200-100011000	Weak transcription	Brain Substantia Nigra	brain
48	chr3:99997200-100017800	Weak transcription	Brain Angular Gyrus	brain
49	chr3:99997600-100004200	Weak transcription	Dnd41	blood
50	chr3:99997600-100017000	Weak transcription	Brain Hippocampus Middle	brain

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