Variant report

Variant	rs73284250
Chromosome Location	chr14:68505248-68505249
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	chr14:68497334..68499807-chr14:68504444..68506718,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34166395	1.00[AMR][1000 genomes]
rs36069478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36111142	1.00[AMR][1000 genomes]
rs4346147	1.00[AMR][1000 genomes]
rs73280500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282497	1.00[AFR][1000 genomes]
rs73284217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284252	0.92[AFR][1000 genomes];1.00[AMR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68494800-68506200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68497400-68506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68499400-68508400	Weak transcription	Fetal Kidney	kidney
4	chr14:68499800-68512600	Weak transcription	Adipose Nuclei	Adipose
5	chr14:68499800-68516200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:68500600-68507400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:68501200-68507400	Weak transcription	Ovary	ovary
8	chr14:68501200-68508200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:68502400-68505600	Enhancers	Fetal Stomach	stomach
10	chr14:68503000-68507600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:68503000-68508200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68503200-68506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:68503400-68506400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:68503400-68506600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:68503400-68509200	Weak transcription	Fetal Intestine Small	intestine
16	chr14:68503400-68509200	Weak transcription	Stomach Mucosa	stomach
17	chr14:68503600-68519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68504200-68505400	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:68504400-68505400	Enhancers	Colon Smooth Muscle	Colon
20	chr14:68504600-68505400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:68504800-68506600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:68505200-68508000	Weak transcription	Fetal Lung	lung

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