Variant report

Variant	rs4256313
Chromosome Location	chr5:179043041-179043042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179040431..179043437-chr5:179125236..179127869,3	K562	blood:
2	chr5:178976811..178980871-chr5:179039605..179043375,3	K562	blood:

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10054335	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056863	0.81[ASN][1000 genomes]
rs11249649	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13183244	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28639796	0.84[ASN][1000 genomes]
rs34316961	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4131080	0.81[ASN][1000 genomes]
rs4336318	0.89[ASN][1000 genomes]
rs4376229	0.81[ASN][1000 genomes]
rs4563584	0.91[ASN][1000 genomes]
rs4608884	0.86[ASN][1000 genomes]
rs4701143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56071539	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62397276	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601054	0.85[ASN][1000 genomes]
rs66479467	0.89[ASN][1000 genomes]
rs6895677	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7448707	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706275	0.80[ASN][1000 genomes]
rs8087	0.83[ASN][1000 genomes]
rs8180434	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4256313	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
2	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
4	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:179028800-179045000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
18	chr5:179031000-179045600	Strong transcription	Osteobl	bone
19	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr5:179032800-179045000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
27	chr5:179035200-179044400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:179035200-179045200	Strong transcription	Fetal Brain Female	brain
29	chr5:179035400-179043200	Strong transcription	GM12878-XiMat	blood
30	chr5:179035600-179043400	Strong transcription	Hela-S3	cervix
31	chr5:179035600-179045000	Strong transcription	Brain Substantia Nigra	brain
32	chr5:179035600-179045000	Strong transcription	Thymus	Thymus
33	chr5:179035600-179045200	Strong transcription	Brain Hippocampus Middle	brain
34	chr5:179035800-179043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:179035800-179046200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:179036000-179045200	Strong transcription	NHEK	skin
37	chr5:179036000-179046000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:179036200-179045200	Strong transcription	Brain Angular Gyrus	brain
39	chr5:179036400-179044800	Strong transcription	HMEC	breast
40	chr5:179036400-179046200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:179036800-179044400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr5:179036800-179044800	Genic enhancers	K562	blood
43	chr5:179036800-179045000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:179036800-179045600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:179036800-179046200	Strong transcription	HSMMtube	muscle
46	chr5:179037000-179044800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:179037000-179045600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179037200-179046000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:179037200-179046000	Strong transcription	Ovary	ovary
50	chr5:179037400-179045800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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