Variant report

Variant	rs6547997
Chromosome Location	chr2:30386174-30386175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30384606..30386933-chr2:30884491..30886230,2	K562	blood:
2	chr2:30312781..30315363-chr2:30384135..30387056,2	K562	blood:
3	chr2:30385694..30390672-chr2:30453095..30455897,4	K562	blood:
4	chr2:30385218..30387930-chr2:30389769..30391662,2	K562	blood:
5	chr2:30382169..30383978-chr2:30384260..30386261,2	K562	blood:
6	chr2:30368086..30373772-chr2:30384153..30389116,5	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1345151	0.82[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs1509576	0.83[ASN][1000 genomes]
rs1509578	0.89[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs1509579	0.82[ASN][1000 genomes]
rs17009154	0.90[JPT][hapmap]
rs17009178	0.81[ASN][1000 genomes]
rs1947144	0.86[ASN][1000 genomes]
rs2084336	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2361745	0.84[EUR][1000 genomes]
rs3768669	0.81[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3768670	0.81[ASN][1000 genomes]
rs3768671	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3886897	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4332963	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4603808	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951982	0.90[JPT][hapmap]
rs4952097	0.84[EUR][1000 genomes]
rs4952101	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6547994	0.90[JPT][hapmap]
rs6710956	0.80[CHD][hapmap];0.95[JPT][hapmap]
rs6737446	0.83[EUR][1000 genomes]
rs6739748	0.80[ASN][1000 genomes]
rs7558409	0.84[EUR][1000 genomes]
rs7585724	0.81[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7596566	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs935486	0.83[CHD][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6547997	UCN	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30374000-30387400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:30374000-30387400	Weak transcription	Psoas Muscle	Psoas
4	chr2:30374000-30387400	Weak transcription	Hela-S3	cervix
5	chr2:30374400-30386200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:30374600-30386200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:30374800-30387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:30378600-30386200	Strong transcription	Primary T cells from cord blood	blood
9	chr2:30382000-30387600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:30382000-30389200	Weak transcription	Colonic Mucosa	Colon
11	chr2:30382400-30386800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:30382400-30387400	Weak transcription	NHLF	lung
13	chr2:30382400-30387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30382400-30387600	Weak transcription	Right Ventricle	heart
15	chr2:30382400-30387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:30382400-30389000	Weak transcription	Pancreas	Pancrea
17	chr2:30382400-30390400	Weak transcription	Esophagus	oesophagus
18	chr2:30382400-30392000	Weak transcription	Gastric	stomach
19	chr2:30382400-30393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:30382400-30395600	Weak transcription	Aorta	Aorta
21	chr2:30382400-30400400	Weak transcription	Left Ventricle	heart
22	chr2:30382400-30400600	Weak transcription	Lung	lung
23	chr2:30382400-30400600	Weak transcription	Spleen	Spleen
24	chr2:30382600-30387200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:30382800-30386200	Weak transcription	HepG2	liver
26	chr2:30382800-30387600	Weak transcription	Fetal Stomach	stomach
27	chr2:30383000-30387400	Weak transcription	A549	lung
28	chr2:30383200-30386800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:30383200-30387600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:30383400-30386200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:30383400-30387400	Weak transcription	NH-A	brain
32	chr2:30383400-30387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:30383400-30387600	Weak transcription	Fetal Lung	lung
34	chr2:30383400-30387600	Weak transcription	Ovary	ovary
35	chr2:30383400-30387800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:30383400-30387800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:30383400-30388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:30383400-30392000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:30383400-30392200	Weak transcription	Thymus	Thymus
40	chr2:30383400-30393400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:30383400-30395200	Weak transcription	Fetal Heart	heart
42	chr2:30383600-30386600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:30383600-30387000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:30383600-30387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:30383600-30387400	Weak transcription	HMEC	breast
46	chr2:30383600-30387600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:30383600-30387600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:30383600-30387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:30383600-30387600	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:30383600-30387600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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