Variant report

Variant	rs8137391
Chromosome Location	chr22:29422227-29422228
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	chr22:29195275..29197887-chr22:29421541..29423870,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf31-1	chr22:29420987-29422997	ENSG00000177993

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11912198	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12627758	1.00[YRI][hapmap]
rs16986908	0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16986912	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs16986925	1.00[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16986971	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16986990	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762930	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5762931	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5762938	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5997413	1.00[ASN][1000 genomes]
rs7292372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882438	1.00[EUR][1000 genomes];1.00[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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8137391	JUP	trans	lymphoblastoid	seeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
7	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
10	chr22:29418600-29422600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:29419600-29424200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29419600-29424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29419600-29425000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29419600-29425000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:29419600-29425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29419600-29425600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:29419600-29426000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:29419600-29426200	Weak transcription	HSMM	muscle
19	chr22:29419800-29422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:29419800-29424600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29419800-29424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:29419800-29425400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:29419800-29425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:29419800-29426000	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:29419800-29426200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:29419800-29426200	Weak transcription	Ovary	ovary
27	chr22:29419800-29426200	Weak transcription	Right Atrium	heart
28	chr22:29420000-29423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:29420000-29424000	Weak transcription	Fetal Lung	lung
30	chr22:29420000-29424200	Weak transcription	Fetal Stomach	stomach
31	chr22:29420000-29424400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:29420000-29424400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:29420000-29424400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:29420000-29424600	Weak transcription	Gastric	stomach
35	chr22:29420000-29424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:29420000-29424600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:29420000-29424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29420000-29425400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:29420000-29425400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:29420000-29425400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:29420000-29426400	Weak transcription	Esophagus	oesophagus
42	chr22:29420000-29426400	Weak transcription	Left Ventricle	heart
43	chr22:29420000-29426400	Weak transcription	Lung	lung
44	chr22:29420000-29426400	Weak transcription	Right Ventricle	heart
45	chr22:29420200-29423600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:29420400-29424200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:29420400-29424200	Weak transcription	A549	lung
48	chr22:29420600-29423800	Weak transcription	Liver	Liver
49	chr22:29420600-29424200	Weak transcription	Stomach Mucosa	stomach
50	chr22:29420600-29424400	Weak transcription	K562	blood

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