Variant report

Variant	rs16835204
Chromosome Location	chr1:193175173-193175174
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	chr1:193007124..193009673-chr1:193173474..193175709,2	K562	blood:
2	chr1:193172847..193175816-chr1:193181205..193182929,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1221501	0.80[AFR][1000 genomes]
rs12531	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1536100	0.88[ASW][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16835169	1.00[YRI][hapmap]
rs2265555	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs41305084	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes]
rs506721	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.83[AFR][1000 genomes]
rs56986460	0.87[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs6665739	1.00[YRI][hapmap]
rs6665751	1.00[YRI][hapmap]
rs6682435	1.00[MEX][hapmap]
rs6687899	1.00[MEX][hapmap]
rs74130932	0.87[AFR][1000 genomes]
rs74130935	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.92[AFR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes]
rs74130938	0.87[AFR][1000 genomes]
rs74130939	0.87[AFR][1000 genomes]
rs74130940	0.83[AFR][1000 genomes]
rs74130941	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130942	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518409	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7522932	0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7551600	0.87[AFR][1000 genomes]
rs7553830	1.00[MEX][hapmap]
rs7556154	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[AFR][1000 genomes]
rs7556241	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[AFR][1000 genomes]
rs817134	0.87[AFR][1000 genomes]
rs817135	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
2	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
4	chr1:193156000-193175400	Weak transcription	HMEC	breast
5	chr1:193156200-193175400	Weak transcription	NHEK	skin
6	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
7	chr1:193156600-193180200	Weak transcription	NH-A	brain
8	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:193159400-193175400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:193159600-193178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:193159800-193185000	Weak transcription	Fetal Brain Male	brain
12	chr1:193160000-193175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:193160000-193175200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:193160200-193175400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:193160200-193180200	Weak transcription	HSMMtube	muscle
16	chr1:193162000-193176200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:193162000-193176400	Weak transcription	Thymus	Thymus
18	chr1:193162000-193186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:193162000-193186200	Weak transcription	Placenta	Placenta
20	chr1:193162200-193175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:193162200-193176200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:193162200-193176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:193162200-193176400	Weak transcription	Liver	Liver
24	chr1:193162200-193180400	Weak transcription	NHLF	lung
25	chr1:193162200-193183000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:193162200-193186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:193162400-193175200	Weak transcription	Fetal Lung	lung
28	chr1:193162400-193175400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:193162400-193175600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:193162400-193186000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:193163000-193180000	Weak transcription	Hela-S3	cervix
32	chr1:193164800-193177200	Weak transcription	HSMM	muscle
33	chr1:193165200-193175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:193166800-193176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:193166800-193181400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:193167800-193210400	Weak transcription	Ovary	ovary
37	chr1:193168000-193176400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
39	chr1:193168800-193175800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:193168800-193184800	Weak transcription	Fetal Stomach	stomach
41	chr1:193169000-193190800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:193169200-193176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:193169400-193186400	Weak transcription	Left Ventricle	heart
44	chr1:193170000-193186200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:193170800-193175200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:193170800-193175400	Weak transcription	Brain Germinal Matrix	brain
49	chr1:193170800-193175600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:193170800-193178400	Weak transcription	HepG2	liver

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