Variant report

Variant	rs28930674
Chromosome Location	chr1:193150219-193150220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193148923..193151595-chr1:193155300..193157650,2	K562	blood:
2	chr1:193149877..193151393-chr1:193197676..193200636,2	K562	blood:
3	chr1:193147624..193150374-chr1:193271441..193274331,2	K562	blood:
4	chr1:193144913..193148643-chr1:193149286..193152913,4	K562	blood:
5	chr1:193148511..193151595-chr1:193154546..193157650,5	K562	blood:

Variant related genes	Relation type
ENSG00000232077	Chromatin interaction
ENSG00000162630	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10801186	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921331	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs12122868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123511	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12123750	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12123793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123970	1.00[CEU][hapmap]
rs12124921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12124924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12128125	0.89[EUR][1000 genomes]
rs12129126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12132305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12134846	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12135148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12135670	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12137391	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12141336	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12141559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143573	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145101	1.00[ASW][hapmap];0.85[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145609	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145761	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1325196	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17526825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17528639	0.80[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17592633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17593120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17593414	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2887640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs28930673	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6663374	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6667917	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6685991	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72731058	0.86[EUR][1000 genomes]
rs72731066	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731068	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740227	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740228	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740230	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740243	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740246	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740261	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740270	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72740276	0.81[EUR][1000 genomes]
rs7525157	0.81[EUR][1000 genomes]
rs817137	0.83[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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
2	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193120400-193150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
5	chr1:193123200-193151600	Weak transcription	Fetal Kidney	kidney
6	chr1:193123200-193153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
8	chr1:193123800-193150400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:193123800-193153200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:193124000-193152000	Weak transcription	Liver	Liver
11	chr1:193124000-193153600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:193124000-193154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:193124200-193150400	Weak transcription	NHDF-Ad	bronchial
14	chr1:193125200-193152200	Weak transcription	A549	lung
15	chr1:193126200-193152600	Weak transcription	HepG2	liver
16	chr1:193126200-193154400	Weak transcription	NHEK	skin
17	chr1:193126200-193155200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:193126200-193155200	Weak transcription	Gastric	stomach
19	chr1:193126800-193155000	Weak transcription	Fetal Thymus	thymus
20	chr1:193127600-193154400	Weak transcription	Hela-S3	cervix
21	chr1:193128600-193154800	Weak transcription	NH-A	brain
22	chr1:193129400-193153600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:193130400-193154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:193133200-193153600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:193133200-193154800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:193133200-193154800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:193134000-193154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:193135600-193155000	Weak transcription	Small Intestine	intestine
30	chr1:193135600-193155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:193136000-193152600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:193136000-193152600	Weak transcription	Fetal Stomach	stomach
33	chr1:193137600-193150400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:193137600-193154400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:193137600-193154800	Weak transcription	HMEC	breast
36	chr1:193137800-193150400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:193139200-193151600	Weak transcription	Fetal Heart	heart
38	chr1:193140200-193154800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:193140400-193152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:193140400-193155200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:193140400-193159800	Weak transcription	Dnd41	blood
42	chr1:193140600-193154800	Weak transcription	HUVEC	blood vessel
43	chr1:193140600-193155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:193140800-193151000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:193140800-193151600	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:193140800-193152000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:193140800-193154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:193141200-193150400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:193141200-193152400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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