Variant report

Variant	rs2211498
Chromosome Location	chr1:154896032-154896033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154894734..154897695-chr1:154923296..154925878,2	K562	blood:
2	chr1:154895929..154898586-chr1:154934188..154935889,2	K562	blood:

Variant related genes	Relation type
ENSG00000163348	Chromatin interaction
ENSG00000271380	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10908448	1.00[YRI][hapmap]
rs11264286	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11581175	1.00[CEU][hapmap]
rs11799384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1218582	0.96[YRI][hapmap]
rs1580943	1.00[YRI][hapmap]
rs16836521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891805	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs2102423	0.92[YRI][hapmap]
rs2174507	1.00[YRI][hapmap]
rs2335408	0.92[YRI][hapmap]
rs34215800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4240874	0.83[AFR][1000 genomes]
rs4845398	0.94[YRI][hapmap]
rs4845400	0.82[AFR][1000 genomes]
rs4845690	1.00[YRI][hapmap]
rs55887894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56720968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656435	0.80[AFR][1000 genomes]
rs6689022	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6696628	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6699043	0.92[YRI][hapmap]
rs7539805	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7543051	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7551495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs869506	1.00[YRI][hapmap]
rs877343	0.87[YRI][hapmap]
rs906593	1.00[YRI][hapmap]
rs9793588	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv2977	chr1:154881053-154907613	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:154884000-154897800	Weak transcription	HMEC	breast
4	chr1:154884800-154896200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154884800-154908400	Weak transcription	Psoas Muscle	Psoas
6	chr1:154886000-154897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:154886800-154908200	Weak transcription	Fetal Heart	heart
8	chr1:154889600-154897200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:154889800-154900800	Weak transcription	HepG2	liver
10	chr1:154890000-154896200	Weak transcription	Colonic Mucosa	Colon
11	chr1:154891200-154908600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:154891600-154897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:154891600-154897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:154892600-154898200	Strong transcription	Fetal Thymus	thymus
15	chr1:154892600-154903600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:154892600-154905400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:154893000-154896200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:154893200-154896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154893200-154897000	Weak transcription	NHLF	lung
20	chr1:154893200-154902800	Strong transcription	Liver	Liver
21	chr1:154893200-154905600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:154893200-154908200	Weak transcription	NH-A	brain
23	chr1:154893400-154896400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:154893400-154897400	Weak transcription	Dnd41	blood
25	chr1:154893400-154901200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:154893400-154902600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:154893400-154905600	Strong transcription	Fetal Stomach	stomach
28	chr1:154893600-154898600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:154893800-154896200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:154893800-154896200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:154893800-154896600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:154893800-154897000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:154893800-154897600	Weak transcription	Fetal Lung	lung
34	chr1:154893800-154897800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:154893800-154898000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:154893800-154898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:154893800-154900600	Weak transcription	Fetal Kidney	kidney
38	chr1:154893800-154903800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:154893800-154904000	Weak transcription	Stomach Mucosa	stomach
40	chr1:154894200-154901800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr1:154894200-154902600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:154894200-154905000	Strong transcription	Fetal Brain Female	brain
43	chr1:154894400-154896200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:154894400-154897800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:154894400-154898200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:154894400-154898400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:154894400-154904800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:154894400-154908400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:154894600-154896200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:154894600-154896200	Weak transcription	Small Intestine	intestine

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