Variant report

Variant	rs7542361
Chromosome Location	chr1:171168693-171168694
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	chr1:171161907..171164775-chr1:171168366..171171218,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10912667	0.87[ASN][1000 genomes]
rs12121072	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124505	0.98[ASN][1000 genomes]
rs12126946	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2020870	0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.82[ASN][1000 genomes]
rs2072756	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28369802	0.88[ASN][1000 genomes]
rs28369803	0.88[ASN][1000 genomes]
rs28369818	0.92[ASN][1000 genomes]
rs28369863	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28369865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369918	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28384819	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6662994	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6662995	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6677549	0.80[ASN][1000 genomes]
rs7518693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7519117	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7527067	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7527478	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7539639	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551282	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7556029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
3	chr1:171156600-171179600	Weak transcription	NHLF	lung
4	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
5	chr1:171161000-171171800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:171165400-171168800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:171165600-171173400	Strong transcription	Left Ventricle	heart
8	chr1:171165800-171174400	Weak transcription	Stomach Mucosa	stomach
9	chr1:171166000-171169600	Strong transcription	Aorta	Aorta
10	chr1:171166000-171174600	Weak transcription	Pancreas	Pancrea
11	chr1:171166000-171178000	Weak transcription	Psoas Muscle	Psoas
12	chr1:171166000-171184000	Weak transcription	Gastric	stomach
13	chr1:171166400-171169400	Weak transcription	Right Atrium	heart
14	chr1:171166600-171175400	Strong transcription	Adipose Nuclei	Adipose
15	chr1:171167200-171169400	Weak transcription	Fetal Brain Male	brain
16	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:171168400-171169200	ZNF genes & repeats	Lung	lung
18	chr1:171168400-171170200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:171168400-171170400	Strong transcription	Fetal Lung	lung
20	chr1:171168400-171171800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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