Variant report

Variant	rs34514406
Chromosome Location	chr1:150488478-150488479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150234614..150237282-chr1:150487610..150489545,2	K562	blood:
2	chr1:150486264..150488828-chr1:150527799..150530470,2	K562	blood:
3	chr1:150254103..150255766-chr1:150487973..150490880,2	MCF-7	breast:
4	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
5	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:
6	chr1:150486269..150489101-chr1:150530293..150532763,2	MCF-7	breast:
7	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:
8	chr1:150458483..150461483-chr1:150486453..150489390,6	MCF-7	breast:
9	chr1:150335902..150337829-chr1:150486316..150488661,2	MCF-7	breast:
10	chr1:150488300..150489850-chr1:150945808..150948480,2	MCF-7	breast:
11	chr1:150488378..150490694-chr1:150500940..150503568,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECM1-1	chr1:150488233-150488538	ENSG00000228126

No data

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000237781	Chromatin interaction
ENSG00000143418	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11799813	1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11803617	0.81[EUR][1000 genomes]
rs11806171	1.00[ASN][1000 genomes]
rs11807119	1.00[ASN][1000 genomes]
rs11809332	1.00[ASN][1000 genomes]
rs11810419	0.89[EUR][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	1.00[ASN][1000 genomes]
rs12735903	1.00[ASN][1000 genomes]
rs12736584	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743761	1.00[ASN][1000 genomes]
rs12745672	1.00[ASN][1000 genomes]
rs12749958	1.00[ASN][1000 genomes]
rs12756583	1.00[ASN][1000 genomes]
rs12759551	1.00[ASN][1000 genomes]
rs28495360	1.00[ASN][1000 genomes]
rs34001546	1.00[ASN][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34307322	1.00[ASN][1000 genomes]
rs34347495	1.00[ASN][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34964511	1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35347210	1.00[ASN][1000 genomes]
rs35437473	1.00[ASN][1000 genomes]
rs35762205	1.00[ASN][1000 genomes]
rs35839143	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs71515775	1.00[ASN][1000 genomes]
rs71622688	1.00[ASN][1000 genomes]
rs71622689	1.00[ASN][1000 genomes]
rs71622694	1.00[ASN][1000 genomes]
rs71622695	1.00[ASN][1000 genomes]
rs71622696	1.00[ASN][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7517003	1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150487200-150488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:150487200-150488800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:150487200-150488800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:150487200-150489000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:150487200-150489000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:150487200-150489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:150487400-150488600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:150487400-150488600	Active TSS	HUVEC	blood vessel
9	chr1:150487400-150488800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:150487400-150488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:150487400-150488800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:150487400-150488800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:150487400-150488800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:150487400-150488800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:150487400-150488800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:150487400-150488800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr1:150487400-150488800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:150487400-150488800	Active TSS	Brain Substantia Nigra	brain
19	chr1:150487400-150488800	Active TSS	Colon Smooth Muscle	Colon
20	chr1:150487400-150488800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:150487400-150488800	Active TSS	Pancreas	Pancrea
22	chr1:150487400-150488800	Active TSS	Psoas Muscle	Psoas
23	chr1:150487400-150488800	Active TSS	Rectal Smooth Muscle	rectum
24	chr1:150487400-150488800	Active TSS	K562	blood
25	chr1:150487400-150488800	Active TSS	NH-A	brain
26	chr1:150487400-150489000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr1:150487400-150489000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr1:150487400-150489000	Active TSS	Left Ventricle	heart
29	chr1:150487400-150489000	Active TSS	Ovary	ovary
30	chr1:150487400-150489000	Active TSS	Right Atrium	heart
31	chr1:150487400-150489000	Active TSS	Right Ventricle	heart
32	chr1:150487400-150489000	Active TSS	A549	lung
33	chr1:150487400-150489200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:150487400-150489200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:150487400-150489200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:150487400-150489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:150487400-150489400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:150487400-150489600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:150487600-150488600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:150487600-150488600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:150487600-150488800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:150487600-150488800	Active TSS	Primary T cells from cord blood	blood
43	chr1:150487600-150488800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:150487600-150488800	Active TSS	Brain Angular Gyrus	brain
45	chr1:150487600-150488800	Active TSS	Brain Anterior Caudate	brain
46	chr1:150487600-150488800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:150487600-150488800	Active TSS	Fetal Kidney	kidney
48	chr1:150487600-150488800	Active TSS	Gastric	stomach
49	chr1:150487600-150488800	Active TSS	Lung	lung
50	chr1:150487600-150488800	Active TSS	Sigmoid Colon	Sigmoid Colon

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