Variant report

Variant	rs6540694
Chromosome Location	chr1:211790637-211790638
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
2	chr1:211789857..211792626-chr1:211793343..211797405,3	MCF-7	breast:
3	chr1:211750028..211753118-chr1:211788431..211791271,4	K562	blood:
4	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:
5	chr1:211789684..211791521-chr1:211794844..211797087,2	K562	blood:
6	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:
7	chr1:211786818..211788395-chr1:211788952..211790929,2	K562	blood:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12724388	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12736496	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470344	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35507775	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61851765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61851769	0.84[ASN][1000 genomes]
rs6540693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540695	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6664930	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6666442	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521959	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:211787000-211796800	Weak transcription	Gastric	stomach
4	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:211788400-211791800	Enhancers	K562	blood
7	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
8	chr1:211788600-211792200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:211788800-211792600	Enhancers	HepG2	liver
10	chr1:211789000-211792200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:211789200-211792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:211789400-211790800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:211789400-211790800	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:211789600-211790800	Enhancers	Left Ventricle	heart
15	chr1:211790200-211794800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:211790200-211794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:211790400-211792200	Weak transcription	Liver	Liver
18	chr1:211790400-211794400	Weak transcription	Esophagus	oesophagus
19	chr1:211790400-211794600	Weak transcription	Right Atrium	heart
20	chr1:211790400-211794800	Weak transcription	Right Ventricle	heart
21	chr1:211790400-211795200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:211790400-211796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:211790400-211798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:211790400-211803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:211790600-211794800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:211790600-211795000	Weak transcription	Adipose Nuclei	Adipose

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