Variant report

Variant	rs55997241
Chromosome Location	chr1:154671128-154671129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154660548..154662732-chr1:154671044..154673697,2	K562	blood:
2	chr1:154670332..154672322-chr1:154683314..154685505,2	K562	blood:
3	chr1:154669640..154672773-chr1:154674548..154678480,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNN3-2	chr1:154671125-154671271	XLOC_001036

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55908418	1.00[AFR][1000 genomes]
rs72698182	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154668200-154671600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:154668400-154671400	Enhancers	Psoas Muscle	Psoas
3	chr1:154668400-154671600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:154668600-154685400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:154669200-154671200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:154669200-154671400	Enhancers	Left Ventricle	heart
7	chr1:154670000-154671400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:154670000-154671400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:154670000-154671400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:154670000-154671400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:154670000-154671400	Enhancers	HMEC	breast
12	chr1:154670000-154671400	Enhancers	HSMMtube	muscle
13	chr1:154670000-154671400	Enhancers	NHEK	skin
14	chr1:154670000-154671600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154670000-154671600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:154670000-154671600	Enhancers	Hela-S3	cervix
17	chr1:154670200-154671200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:154670200-154671400	Enhancers	Liver	Liver
19	chr1:154670200-154671400	Enhancers	Small Intestine	intestine
20	chr1:154670600-154671200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:154670800-154671200	Enhancers	Lung	lung
22	chr1:154670800-154671400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:154670800-154671400	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:154670800-154671400	Enhancers	Fetal Intestine Small	intestine
25	chr1:154670800-154671400	Enhancers	Pancreas	Pancrea
26	chr1:154670800-154671400	Enhancers	Right Ventricle	heart
27	chr1:154670800-154671400	Enhancers	A549	lung
28	chr1:154670800-154671400	Enhancers	GM12878-XiMat	blood
29	chr1:154671000-154671200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:154671000-154671200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:154671000-154671200	Enhancers	Right Atrium	heart
32	chr1:154671000-154671400	Flanking Active TSS	HepG2	liver
33	chr1:154671000-154671400	Enhancers	Monocytes-CD14+_RO01746	blood

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