Variant report

Variant	rs12061921
Chromosome Location	chr1:159792936-159792937
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	chr1:159785033..159789161-chr1:159789776..159794459,5	K562	blood:
2	chr1:159791951..159794341-chr1:159795509..159798284,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf204-2	chr1:159792704-159792991	NONHSAT007019

Variant related genes	Relation type
ENSG00000158714	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11265282	1.00[JPT][hapmap]
rs12080483	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12083595	1.00[CEU][hapmap]
rs12092214	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12092557	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3935782	1.00[EUR][1000 genomes]
rs4076130	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55739401	0.82[ASN][1000 genomes]
rs60205880	0.82[ASN][1000 genomes]
rs61689224	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028938	1.00[EUR][1000 genomes]
rs7527418	1.00[JPT][hapmap];0.82[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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159774800-159796000	Weak transcription	Right Atrium	heart
2	chr1:159775800-159793400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:159779600-159794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:159788600-159793000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:159789800-159793000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:159791000-159795800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:159791000-159796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:159791200-159793200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:159792000-159796000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:159792200-159793400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:159792200-159793800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr1:159792400-159793200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:159792400-159793600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:159792400-159794200	Enhancers	Esophagus	oesophagus
15	chr1:159792400-159794200	Enhancers	Fetal Intestine Small	intestine
16	chr1:159792400-159796600	Enhancers	Placenta	Placenta
17	chr1:159792600-159793600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:159792600-159793600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:159792600-159794000	Enhancers	Fetal Brain Male	brain
20	chr1:159792600-159794200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:159792800-159793000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:159792800-159793200	Weak transcription	Lung	lung
23	chr1:159792800-159793600	Enhancers	Spleen	Spleen
24	chr1:159792800-159793800	Enhancers	Fetal Intestine Large	intestine
25	chr1:159792800-159793800	Bivalent Enhancer	NHEK	skin
26	chr1:159792800-159794000	Enhancers	Duodenum Mucosa	Duodenum

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