Variant report

Variant	rs61747761
Chromosome Location	chr19:39364584-39364585
allele	C/T
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:4)
LncRNA
region (count:3)
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	USF1	chr19:39364569-39364971	H1-hESC	embryonic stem cell:	n/a	chr19:39364875-39364886

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39339114..39344809-chr19:39363672..39368217,5	MCF-7	breast:
2	chr19:39355225..39357682-chr19:39363417..39365979,2	MCF-7	breast:
3	chr19:39360618..39362149-chr19:39364432..39366266,2	MCF-7	breast:
4	chr19:39339459..39342949-chr19:39362515..39366031,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RINL-1	chr19:39364526-39364628	NONHSAT066256
2	lnc-RINL-1	chr19:39364391-39364628	NONHSAT066255
3	lnc-RINL-1	chr19:39364526-39364628	NONHSAT066254

No data

Variant related genes	Relation type
RINL	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000187994	Chromatin interaction
ENSG00000269050	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10413482	0.86[EUR][1000 genomes]
rs10417798	0.83[EUR][1000 genomes]
rs10853721	0.86[EUR][1000 genomes]
rs4499346	0.86[EUR][1000 genomes]
rs4801905	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4801906	0.89[EUR][1000 genomes]
rs57195546	0.90[EUR][1000 genomes]
rs60637521	0.92[EUR][1000 genomes]
rs73930204	0.89[EUR][1000 genomes]
rs73930206	0.90[EUR][1000 genomes]
rs73933062	0.82[EUR][1000 genomes]
rs8111670	0.82[EUR][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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911673	chr19:39335274-39365401	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61747761	HNRNPL	N/A	lymphoblastoid	RTeQTL
rs61747761	HNRNPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39356200-39368000	Weak transcription	HepG2	liver
2	chr19:39360800-39371400	Weak transcription	NHLF	lung
3	chr19:39360800-39379200	Weak transcription	NHDF-Ad	bronchial
4	chr19:39361000-39370000	Weak transcription	Aorta	Aorta
5	chr19:39361000-39379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:39361000-39380200	Weak transcription	Psoas Muscle	Psoas
7	chr19:39361200-39367200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:39361200-39367800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:39361200-39368200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr19:39361200-39368400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:39361200-39368400	Weak transcription	Stomach Mucosa	stomach
12	chr19:39361200-39368400	Weak transcription	HMEC	breast
13	chr19:39361200-39368600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:39361200-39368600	Weak transcription	Gastric	stomach
15	chr19:39361200-39368600	Weak transcription	Right Atrium	heart
16	chr19:39361200-39369200	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:39361200-39369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:39361200-39369400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:39361200-39369600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:39361200-39369800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:39361200-39369800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:39361200-39369800	Weak transcription	Pancreas	Pancrea
23	chr19:39361200-39370000	Weak transcription	Brain Substantia Nigra	brain
24	chr19:39361200-39370400	Weak transcription	Brain Angular Gyrus	brain
25	chr19:39361200-39370600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:39361200-39370800	Weak transcription	Ovary	ovary
27	chr19:39361200-39371000	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:39361200-39371200	Weak transcription	Liver	Liver
29	chr19:39361200-39376800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:39361400-39364600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:39361400-39367000	Weak transcription	Fetal Intestine Large	intestine
32	chr19:39361400-39367200	Strong transcription	Fetal Intestine Small	intestine
33	chr19:39361400-39367800	Weak transcription	GM12878-XiMat	blood
34	chr19:39361400-39368000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:39361400-39368200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:39361400-39368200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:39361400-39368200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:39361400-39368400	Weak transcription	Fetal Thymus	thymus
39	chr19:39361400-39368400	Weak transcription	Left Ventricle	heart
40	chr19:39361400-39368400	Weak transcription	Lung	lung
41	chr19:39361400-39368400	Weak transcription	Thymus	Thymus
42	chr19:39361400-39368600	Weak transcription	Esophagus	oesophagus
43	chr19:39361400-39368600	Weak transcription	Fetal Stomach	stomach
44	chr19:39361400-39369200	Weak transcription	Brain Germinal Matrix	brain
45	chr19:39361400-39369200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:39361600-39365600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:39361600-39367000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:39361600-39367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:39361600-39367200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:39361600-39368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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