Variant report

Variant	rs6690072
Chromosome Location	chr1:114626282-114626283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114614196..114617663-chr1:114624428..114628635,5	MCF-7	breast:
2	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:
3	chr1:114620515..114623507-chr1:114624325..114627250,3	K562	blood:
4	chr1:114590926..114593498-chr1:114625359..114627730,2	MCF-7	breast:
5	chr1:114623967..114627228-chr1:114653926..114657100,3	K562	blood:

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

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

rs_ID	r²[population]
rs10858027	0.82[EUR][1000 genomes]
rs11102725	0.94[EUR][1000 genomes]
rs11102726	0.98[EUR][1000 genomes]
rs11585525	0.98[EUR][1000 genomes]
rs11585561	0.98[EUR][1000 genomes]
rs12123649	0.98[EUR][1000 genomes]
rs12125801	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1847389	0.94[EUR][1000 genomes]
rs2938348	0.82[EUR][1000 genomes]
rs4240538	0.98[EUR][1000 genomes]
rs496267	0.97[EUR][1000 genomes]
rs6687019	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS 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 target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114621800-114626600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:114621800-114626600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:114621800-114626600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:114623600-114626600	Enhancers	NHEK	skin
6	chr1:114623600-114629800	Weak transcription	Pancreas	Pancrea
7	chr1:114623800-114626400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:114623800-114626400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:114624400-114626400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:114624400-114626600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:114624600-114626600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:114624600-114626600	Enhancers	HMEC	breast
13	chr1:114624800-114626400	Enhancers	Placenta	Placenta
14	chr1:114624800-114630800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:114625000-114631000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:114625200-114626400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:114625400-114631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:114625400-114631800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
21	chr1:114625600-114631000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:114625600-114631600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:114626000-114629200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:114626000-114630000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:114626000-114630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:114626000-114630800	Weak transcription	Fetal Lung	lung
27	chr1:114626200-114626400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:114626200-114626400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:114626200-114626400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:114626200-114626400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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