Variant report

Variant	rs6601049
Chromosome Location	chr5:178982665-178982666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:178979510-178983668	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
2	chr5:178980836..178983768-chr5:179095589..179098241,2	MCF-7	breast:
3	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
4	chr5:178979685..178981544-chr5:178981841..178984975,3	K562	blood:
5	chr5:178981570..178984338-chr5:178984530..178988621,4	K562	blood:
6	chr5:178981782..178983559-chr5:178998257..179000519,2	K562	blood:
7	chr5:178976021..178979527-chr5:178979544..178984972,9	K562	blood:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000249140	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2411387	0.91[ASN][1000 genomes]
rs6865827	0.91[ASN][1000 genomes]
rs72822602	0.87[EUR][1000 genomes]
rs72824510	0.84[EUR][1000 genomes]
rs72824515	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	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
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6601049	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178978600-178986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:178978800-178985600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:178978800-178985600	Weak transcription	Fetal Brain Female	brain
4	chr5:178978800-178986000	Weak transcription	Aorta	Aorta
5	chr5:178978800-178986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:178979000-178985600	Weak transcription	HSMM	muscle
7	chr5:178979400-178985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:178979600-178984800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:178979600-178984800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:178979600-178985600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:178979600-178985600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:178979600-178985800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:178979600-178986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:178979800-178986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:178980000-178985600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:178980000-178985800	Weak transcription	Brain Anterior Caudate	brain
17	chr5:178980000-178985800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:178980200-178983800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:178980200-178985000	Weak transcription	Liver	Liver
20	chr5:178980200-178985600	Weak transcription	Fetal Lung	lung
21	chr5:178980200-178985600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:178980200-178985800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:178980400-178984600	Weak transcription	GM12878-XiMat	blood
24	chr5:178980400-178985400	Weak transcription	Fetal Brain Male	brain
25	chr5:178980400-178985600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:178980400-178985600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:178980400-178985600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:178980400-178985600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:178980400-178985600	Weak transcription	A549	lung
30	chr5:178980400-178985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:178980400-178985800	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:178980400-178985800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:178980400-178985800	Weak transcription	Right Atrium	heart
34	chr5:178980400-178985800	Weak transcription	NHLF	lung
35	chr5:178980400-178986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:178980400-178986000	Weak transcription	Colonic Mucosa	Colon
37	chr5:178980400-178986000	Weak transcription	Placenta	Placenta
38	chr5:178980400-178986200	Weak transcription	Gastric	stomach
39	chr5:178980600-178985600	Weak transcription	Primary B cells from cord blood	blood
40	chr5:178980600-178986000	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:178981000-178985400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:178981000-178985600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:178981000-178985600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:178981000-178985800	Weak transcription	Adipose Nuclei	Adipose
45	chr5:178981000-178985800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:178981000-178985800	Weak transcription	HSMMtube	muscle
47	chr5:178981000-178986000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:178981000-178986000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:178981200-178984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:178981200-178985000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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