Variant report

Variant	rs6534216
Chromosome Location	chr4:121765527-121765528
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	chr4:121763712..121766459-chr4:121767957..121770236,3	MCF-7	breast:
2	chr4:121764972..121765670-chr4:121898848..121899366,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10033707	0.80[YRI][hapmap]
rs10518379	0.94[CEU][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10857072	0.83[CEU][hapmap]
rs11728387	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11733915	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap]
rs11734461	0.93[CEU][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11735169	0.93[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12499000	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12500166	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12504122	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12507359	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12507922	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12507924	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12507970	0.93[CEU][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12508015	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12508048	0.94[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12508821	0.94[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509870	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12509912	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509939	0.94[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs12509993	0.93[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1511303	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1511304	0.83[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1511305	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs1511307	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1511308	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1567551	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051250	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17051251	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051256	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051258	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051260	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051266	0.85[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1849078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1868715	0.94[ASW][hapmap];0.83[CEU][hapmap];0.80[YRI][hapmap]
rs1949110	0.93[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1949111	0.93[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2122510	0.94[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2203059	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2203060	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2221814	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2221815	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343190	0.82[CEU][hapmap]
rs3761721	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804162	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs3804163	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804164	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804165	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804166	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804167	0.94[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3804168	0.87[CEU][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804169	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804171	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827583	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4336252	0.94[CEU][hapmap];0.80[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4833178	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833179	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833180	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833181	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833186	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833674	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833680	0.94[CEU][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs4833684	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833686	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4833687	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55901892	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56402218	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56998648	0.81[AFR][1000 genomes]
rs6811794	0.88[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72921534	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs729934	0.94[CEU][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
5	chr4:121758200-121770400	Weak transcription	HSMM	muscle
6	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:121759600-121775400	Weak transcription	Gastric	stomach
8	chr4:121760400-121775800	Weak transcription	Lung	lung
9	chr4:121760600-121765600	Weak transcription	Ovary	ovary
10	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
12	chr4:121761400-121774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
14	chr4:121761600-121767400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:121763600-121776600	Weak transcription	Fetal Stomach	stomach
17	chr4:121763800-121769800	Weak transcription	Osteobl	bone
18	chr4:121763800-121770400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:121763800-121771000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:121763800-121776600	Weak transcription	Fetal Heart	heart
21	chr4:121764000-121770000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:121764200-121767800	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:121764400-121769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:121765000-121765600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:121765000-121766400	Enhancers	Fetal Intestine Large	intestine
26	chr4:121765200-121765600	Enhancers	Fetal Lung	lung
27	chr4:121765200-121765600	Enhancers	GM12878-XiMat	blood
28	chr4:121765400-121765600	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:121765400-121765800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:121765400-121765800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:121765400-121766000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:121765400-121766000	Enhancers	Fetal Intestine Small	intestine
33	chr4:121765400-121766000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:121765400-121766200	Enhancers	NHDF-Ad	bronchial
35	chr4:121765400-121766400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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