Variant report

Variant	rs9997422
Chromosome Location	chr4:55951432-55951433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55942347..55945090-chr4:55949932..55951723,2	K562	blood:
2	chr4:55949311..55952225-chr4:55953884..55956071,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10024872	1.00[AMR][1000 genomes]
rs10027862	1.00[ASN][1000 genomes]
rs28452489	1.00[AMR][1000 genomes]
rs56743302	1.00[AMR][1000 genomes]
rs60295650	1.00[AMR][1000 genomes]
rs6829950	1.00[AMR][1000 genomes]
rs6829974	1.00[AMR][1000 genomes]
rs73136549	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55942600-55953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55942600-55953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:55943200-55960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:55943200-55990000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:55946200-55952800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:55946200-55953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:55946400-55952000	Weak transcription	Brain Substantia Nigra	brain
8	chr4:55946400-55953200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:55946400-55953600	Weak transcription	Right Ventricle	heart
10	chr4:55946600-55953000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:55946600-55953200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:55946600-55963000	Weak transcription	Psoas Muscle	Psoas
13	chr4:55946800-55952600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:55946800-55953200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:55946800-55953600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:55946800-55971800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:55946800-55982800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:55947000-55953600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:55947000-55953600	Weak transcription	Adipose Nuclei	Adipose
20	chr4:55947200-55982600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:55947400-55953400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:55947400-55953600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:55948000-55953200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:55948000-55960200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:55948000-55984800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr4:55948400-55953200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:55949000-55952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:55949400-55963000	Weak transcription	Aorta	Aorta
29	chr4:55950200-55952000	Weak transcription	Left Ventricle	heart
30	chr4:55950400-55953600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:55950800-55957000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:55951000-55953600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:55951000-55970200	Weak transcription	Gastric	stomach
34	chr4:55951200-55951600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:55951200-55952200	Strong transcription	Lung	lung
36	chr4:55951200-55952400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:55951200-55952800	Enhancers	Fetal Lung	lung
38	chr4:55951400-55953200	Enhancers	Brain Germinal Matrix	brain
39	chr4:55951400-55953400	Strong transcription	HUVEC	blood vessel

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