Variant report

Variant	rs4296765
Chromosome Location	chr5:179098060-179098061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179097480..179099129-chr5:179124027..179126055,2	K562	blood:
2	chr5:178980836..178983768-chr5:179095589..179098241,2	MCF-7	breast:
3	chr5:179049036..179051561-chr5:179096691..179099581,2	K562	blood:

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11746066	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7379093	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4296765	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
3	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
4	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:179085800-179104200	Weak transcription	A549	lung
7	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
10	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
11	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
12	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179086000-179103600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179086000-179104000	Weak transcription	Fetal Brain Male	brain
15	chr5:179086000-179104400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:179086000-179104600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:179086000-179104600	Weak transcription	NHEK	skin
18	chr5:179086200-179104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179086200-179104600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:179086200-179104800	Weak transcription	Brain Angular Gyrus	brain
21	chr5:179091000-179104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:179091600-179103800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:179091800-179104800	Weak transcription	Ovary	ovary
24	chr5:179091800-179104800	Weak transcription	NHLF	lung
25	chr5:179092200-179105000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:179092400-179104000	Weak transcription	Liver	Liver
27	chr5:179092400-179104400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:179092400-179104600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:179092600-179103000	Weak transcription	HepG2	liver
30	chr5:179092600-179103600	Weak transcription	Pancreas	Pancrea
31	chr5:179092600-179103800	Weak transcription	Dnd41	blood
32	chr5:179092600-179104200	Weak transcription	Osteobl	bone
33	chr5:179092600-179104600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:179092600-179104600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:179092600-179104800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:179092800-179098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:179092800-179100600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:179092800-179101600	Weak transcription	Fetal Lung	lung
39	chr5:179092800-179104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:179092800-179104400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:179092800-179105000	Weak transcription	Left Ventricle	heart
42	chr5:179093000-179103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:179093000-179104000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:179093000-179104000	Weak transcription	Thymus	Thymus
45	chr5:179093000-179104200	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:179093000-179104600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:179093000-179104800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:179093000-179105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:179093200-179098800	Weak transcription	Placenta	Placenta
50	chr5:179093200-179104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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