Variant report

Variant	rs4254041
Chromosome Location	chr11:16047290-16047291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16039156..16041121-chr11:16045276..16047949,2	K562	blood:
2	chr11:16033382..16036196-chr11:16045412..16048891,3	K562	blood:
3	chr11:16041768..16046202-chr11:16046544..16050056,4	K562	blood:

Variant related genes	Relation type
ENSG00000254878	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10500821	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10500822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500823	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10500824	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10500825	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10500826	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10500827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11023803	1.00[CEU][hapmap]
rs12573976	0.87[AFR][1000 genomes]
rs12574107	0.81[ASN][1000 genomes]
rs12574859	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12574862	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12575006	0.87[EUR][1000 genomes]
rs12575408	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12575412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12575614	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12575858	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12576205	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12576286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12576586	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576597	0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577495	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12577528	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1378308	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1455101	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1598296	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.81[ASN][1000 genomes]
rs1598297	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs16924862	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932405	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes]
rs16932409	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16932414	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16932416	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16932445	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16932450	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16932453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16932455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16932458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16932469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932552	0.82[ASN][1000 genomes]
rs16932570	1.00[CEU][hapmap]
rs16932573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16932576	0.81[ASN][1000 genomes]
rs16932580	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932620	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932622	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs16932625	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932630	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932634	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932650	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs16932653	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932655	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs16932670	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs16932711	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16932719	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1840422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs1840423	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1840424	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1960271	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2351955	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2935046	0.88[ASN][1000 genomes]
rs4279976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4466793	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4478958	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4486592	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4506613	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs55730626	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58002079	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58520714	0.87[EUR][1000 genomes]
rs60718933	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107697	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs7109845	0.80[AFR][1000 genomes]
rs7110987	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs7114427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7126432	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs7129224	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73417055	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73417059	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7924380	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7932204	0.87[AFR][1000 genomes]
rs7936647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7938500	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938840	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7942659	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7946235	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7947008	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7947337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7947622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7947979	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs993698	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs996184	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][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	nsv832074	chr11:15927105-16100772	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1045933	chr11:16023805-16067955	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16023800-16050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:16024400-16067200	Weak transcription	Liver	Liver
3	chr11:16024800-16088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:16034200-16079200	Weak transcription	Pancreas	Pancrea
5	chr11:16035000-16057400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:16036000-16073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:16037600-16081200	Weak transcription	Psoas Muscle	Psoas
8	chr11:16037800-16047600	Weak transcription	Fetal Intestine Large	intestine
9	chr11:16038200-16059200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:16038200-16065000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:16038200-16067200	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:16039000-16059000	Weak transcription	Aorta	Aorta
13	chr11:16039800-16053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:16040000-16047400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:16042000-16057400	Weak transcription	Left Ventricle	heart
16	chr11:16042400-16047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:16043000-16102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:16043400-16052400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:16045800-16048000	Enhancers	Fetal Heart	heart
20	chr11:16045800-16054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:16046600-16049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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