Variant report

Variant	rs73134241
Chromosome Location	chr1:247509417-247509418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12565595	0.93[ASN][1000 genomes]
rs4925536	0.89[EUR][1000 genomes]
rs55863520	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60631274	0.85[EUR][1000 genomes]
rs60859377	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247496400-247511000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:247496600-247511000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:247496800-247510200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:247497000-247511200	Weak transcription	Esophagus	oesophagus
5	chr1:247497200-247509800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:247497200-247516000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:247497400-247511200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:247497400-247511400	Weak transcription	Primary T cells from cord blood	blood
9	chr1:247499600-247511000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:247499600-247511200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:247499800-247510800	Weak transcription	Right Atrium	heart
12	chr1:247500800-247511800	Weak transcription	Fetal Kidney	kidney
13	chr1:247501000-247510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:247501400-247511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:247501600-247537000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:247503400-247511000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247503600-247510400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:247503600-247510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:247503600-247511000	Weak transcription	Ovary	ovary
20	chr1:247503600-247511000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:247503600-247511200	Weak transcription	Placenta	Placenta
22	chr1:247503600-247511200	Weak transcription	Left Ventricle	heart
23	chr1:247503600-247511200	Weak transcription	Lung	lung
24	chr1:247503600-247511200	Weak transcription	Right Ventricle	heart
25	chr1:247503600-247511400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:247503600-247511400	Weak transcription	Spleen	Spleen
27	chr1:247503600-247516400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:247503800-247511000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:247504000-247511200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:247504200-247510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:247504800-247511200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:247504800-247520600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:247505000-247511200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:247505200-247511000	Weak transcription	Fetal Thymus	thymus
35	chr1:247505200-247511200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:247505400-247510400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:247505400-247511000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:247505400-247511000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:247505400-247511000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:247505400-247511000	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:247505400-247511000	Weak transcription	Thymus	Thymus
42	chr1:247505400-247511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:247505400-247511200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:247505400-247511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:247505600-247511000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:247506400-247510000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:247506400-247510400	Weak transcription	K562	blood
48	chr1:247506400-247511000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:247506400-247511000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:247506400-247511000	Weak transcription	Fetal Muscle Trunk	muscle

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