Variant report

Variant	rs1713992
Chromosome Location	chr4:57827664-57827665
allele	A/C
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:3)
LncRNA
region (count:1)
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	chr4:57827061-57827668	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:57827601..57829971-chr4:57841929..57844795,2	MCF-7	breast:
2	chr4:57822641..57828782-chr4:57838494..57846737,10	K562	blood:
3	chr4:57826815..57829812-chr4:57841300..57844628,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REST-4	chr4:57826726-57827705	NONHSAT096532

No data

Variant related genes	Relation type
ENSG00000269949	TF binding region
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10032625	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11936328	0.89[EUR][1000 genomes]
rs1277275	0.84[ASN][1000 genomes]
rs1708762	0.87[AMR][1000 genomes]
rs1708764	0.87[AMR][1000 genomes]
rs1708788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718828	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280804	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865164	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62310289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840624	0.84[EUR][1000 genomes]
rs781546	0.87[AMR][1000 genomes]
rs781547	0.80[AMR][1000 genomes]
rs781548	0.80[AMR][1000 genomes]
rs781550	0.87[AMR][1000 genomes]
rs796680	0.80[AMR][1000 genomes]
rs796681	0.80[AMR][1000 genomes]
rs802920	0.91[AMR][1000 genomes];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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57798200-57828400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
5	chr4:57798400-57828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:57798600-57828200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:57803800-57828400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:57805000-57830800	Weak transcription	Colonic Mucosa	Colon
9	chr4:57819000-57828400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:57820200-57836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:57820200-57836000	Weak transcription	Esophagus	oesophagus
12	chr4:57821200-57829400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:57821600-57832600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:57822600-57832600	Weak transcription	Fetal Brain Male	brain
15	chr4:57823800-57827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:57824000-57827800	Weak transcription	Left Ventricle	heart
17	chr4:57824000-57831400	Weak transcription	Right Ventricle	heart
18	chr4:57824400-57830400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:57824600-57828200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:57824600-57828400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:57824600-57828400	Weak transcription	Brain Germinal Matrix	brain
22	chr4:57824600-57829000	Weak transcription	Ovary	ovary
23	chr4:57824600-57838400	Weak transcription	Aorta	Aorta
24	chr4:57824800-57828200	Weak transcription	NH-A	brain
25	chr4:57825000-57827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:57825000-57828200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:57825200-57827800	Weak transcription	Lung	lung
28	chr4:57825200-57828200	Weak transcription	HSMM	muscle
29	chr4:57825200-57828200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:57825200-57829200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:57825200-57829200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:57825200-57829400	Weak transcription	Brain Angular Gyrus	brain
33	chr4:57825200-57829400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:57825200-57829400	Weak transcription	HSMMtube	muscle
35	chr4:57825200-57829600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:57825200-57829600	Weak transcription	NHEK	skin
37	chr4:57825200-57830600	Weak transcription	Brain Substantia Nigra	brain
38	chr4:57825200-57830800	Weak transcription	HUVEC	blood vessel
39	chr4:57825200-57832400	Weak transcription	A549	lung
40	chr4:57825400-57828000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:57825400-57828000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:57825400-57828400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:57825400-57829600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:57825400-57830600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:57825400-57830600	Weak transcription	K562	blood
46	chr4:57825400-57830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:57825400-57831000	Weak transcription	Fetal Kidney	kidney
48	chr4:57825600-57827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:57825600-57828200	Weak transcription	Primary B cells from cord blood	blood
50	chr4:57825600-57828200	Weak transcription	Osteobl	bone

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