Variant report

Variant	rs34985078
Chromosome Location	chr1:184054014-184054015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184039070..184041132-chr1:184051467..184055071,4	K562	blood:
2	chr1:184043313..184045305-chr1:184053032..184055097,2	K562	blood:
3	chr1:183911278..183913184-chr1:184053876..184055803,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10911511	1.00[ASN][1000 genomes]
rs12735902	1.00[ASN][1000 genomes]
rs35782682	1.00[ASN][1000 genomes]
rs35999930	1.00[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34985078	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184021600-184055800	Weak transcription	Esophagus	oesophagus
2	chr1:184024600-184063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:184024600-184069400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:184024600-184079400	Weak transcription	Thymus	Thymus
5	chr1:184029800-184062000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:184033600-184066600	Weak transcription	Pancreas	Pancrea
7	chr1:184035000-184066200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:184035800-184073400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:184036800-184064800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:184042400-184057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184042600-184054800	Weak transcription	NHEK	skin
12	chr1:184042600-184061800	Weak transcription	Psoas Muscle	Psoas
13	chr1:184043800-184071200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:184044000-184056600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:184044200-184063600	Weak transcription	Primary T cells from cord blood	blood
16	chr1:184044600-184062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:184046800-184057600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:184048800-184061800	Weak transcription	Left Ventricle	heart
19	chr1:184048800-184063600	Weak transcription	Dnd41	blood
20	chr1:184050600-184057200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:184050800-184055600	Weak transcription	Aorta	Aorta
22	chr1:184052400-184055600	Weak transcription	Fetal Stomach	stomach
23	chr1:184052400-184055800	Weak transcription	Ovary	ovary
24	chr1:184053800-184054200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:184054000-184054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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