Variant report

Variant	rs2274986
Chromosome Location	chr1:10527461-10527462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10527279-10527501	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:10527265-10527519	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10526639..10529989-chr1:10530348..10533408,3	K562	blood:
2	chr1:10527253..10528797-chr1:10530391..10532152,2	MCF-7	breast:
3	chr1:10519409..10520909-chr1:10526224..10527915,2	K562	blood:
4	chr1:10521456..10522996-chr1:10526652..10528303,2	K562	blood:
5	chr1:10527442..10529294-chr1:10531066..10533842,2	K562	blood:

No data

Variant related genes	Relation type
PEX14	TF binding region
ENSG00000142655	Chromatin interaction
ENSG00000160049	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28663566	0.85[EUR][1000 genomes]
rs57986045	0.86[EUR][1000 genomes]
rs61776015	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61776020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776260	0.86[EUR][1000 genomes]
rs61776261	0.86[EUR][1000 genomes]
rs61777205	0.86[EUR][1000 genomes]
rs61777209	0.86[EUR][1000 genomes]
rs6540934	0.86[EUR][1000 genomes]
rs6540935	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs6668910	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6679456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680568	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534960	0.86[EUR][1000 genomes]
rs7551790	0.86[EUR][1000 genomes]
rs9661820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:10499200-10531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10510600-10531600	Weak transcription	Right Atrium	heart
3	chr1:10511600-10531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10512400-10531200	Weak transcription	Fetal Brain Male	brain
5	chr1:10516000-10530200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:10516000-10530200	Strong transcription	Fetal Stomach	stomach
7	chr1:10516800-10528000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:10516800-10530200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:10516800-10530400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:10517000-10529800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:10517200-10529400	Strong transcription	Brain Germinal Matrix	brain
12	chr1:10517400-10531600	Weak transcription	Fetal Heart	heart
13	chr1:10517600-10529600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:10517800-10527800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:10517800-10530400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:10518000-10529200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:10518000-10529600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr1:10518000-10529600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:10518000-10530400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:10518200-10530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:10519000-10529200	Strong transcription	Fetal Thymus	thymus
22	chr1:10519000-10529400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:10519000-10529800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10519200-10529600	Strong transcription	Thymus	Thymus
25	chr1:10519600-10530600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:10519800-10531400	Weak transcription	Stomach Mucosa	stomach
27	chr1:10520000-10531200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:10520000-10531400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:10520200-10531200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:10520400-10529600	Strong transcription	Brain Hippocampus Middle	brain
31	chr1:10520400-10530000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:10520600-10529400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:10520600-10529600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:10520600-10530200	Strong transcription	Fetal Intestine Small	intestine
35	chr1:10520600-10530400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10521000-10529400	Strong transcription	Ovary	ovary
37	chr1:10521000-10529600	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:10521000-10529600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:10521000-10529600	Strong transcription	Dnd41	blood
40	chr1:10521000-10529800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:10521000-10530200	Strong transcription	Placenta	Placenta
42	chr1:10521200-10527600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:10521200-10528400	Strong transcription	Liver	Liver
44	chr1:10521200-10529200	Strong transcription	Pancreas	Pancrea
45	chr1:10521200-10529400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:10521200-10529400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:10521200-10529400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:10521200-10529400	Strong transcription	Fetal Lung	lung
49	chr1:10521200-10529400	Strong transcription	Gastric	stomach
50	chr1:10521200-10529400	Strong transcription	Left Ventricle	heart

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