Variant report

Variant	rs2995846
Chromosome Location	chr1:211573739-211573740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211554866..211557592-chr1:211571886..211574017,3	K562	blood:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10732682	0.92[EUR][1000 genomes]
rs10746434	0.82[EUR][1000 genomes]
rs10779554	0.92[EUR][1000 genomes]
rs1084982	0.92[EUR][1000 genomes]
rs1084983	0.96[EUR][1000 genomes]
rs1084986	0.89[EUR][1000 genomes]
rs10863886	0.92[EUR][1000 genomes]
rs10863887	0.92[EUR][1000 genomes]
rs11804635	0.84[EUR][1000 genomes]
rs1533219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1533220	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1663521	0.92[EUR][1000 genomes]
rs1707247	0.92[EUR][1000 genomes]
rs1707252	0.92[EUR][1000 genomes]
rs1707266	0.92[EUR][1000 genomes]
rs1707267	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1877476	0.96[EUR][1000 genomes]
rs1983259	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1983260	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358215	0.96[EUR][1000 genomes]
rs2588658	0.92[EUR][1000 genomes]
rs3123302	0.96[EUR][1000 genomes]
rs3125840	0.84[EUR][1000 genomes]
rs3855878	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4347268	0.92[EUR][1000 genomes]
rs4370817	0.92[EUR][1000 genomes]
rs4556425	0.92[EUR][1000 genomes]
rs4951517	0.92[EUR][1000 genomes]
rs4951735	0.92[EUR][1000 genomes]
rs4951737	0.92[EUR][1000 genomes]
rs4951738	0.96[EUR][1000 genomes]
rs4951739	0.92[EUR][1000 genomes]
rs4951740	0.96[EUR][1000 genomes]
rs6540675	0.92[EUR][1000 genomes]
rs6540676	0.92[EUR][1000 genomes]
rs6540678	0.92[EUR][1000 genomes]
rs6657779	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6663627	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6671526	0.92[EUR][1000 genomes]
rs6672233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688682	0.92[EUR][1000 genomes]
rs6692815	0.92[EUR][1000 genomes]
rs73072839	0.84[EUR][1000 genomes]
rs7517135	0.92[EUR][1000 genomes]
rs7527620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784366	0.85[EUR][1000 genomes]
rs784367	0.96[EUR][1000 genomes]
rs784368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784370	0.92[EUR][1000 genomes]
rs784371	0.89[EUR][1000 genomes]
rs784373	0.96[EUR][1000 genomes]
rs784374	0.96[EUR][1000 genomes]
rs784375	0.96[EUR][1000 genomes]
rs784377	1.00[AFR][1000 genomes]
rs784378	0.92[EUR][1000 genomes]
rs784380	0.92[EUR][1000 genomes]
rs784381	0.92[EUR][1000 genomes]
rs784387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784388	0.96[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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	esv3321965	chr1:211571888-211574349	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3430720	chr1:211571934-211574302	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
5	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
8	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:211565600-211574000	Strong transcription	Liver	Liver
14	chr1:211566800-211574600	Weak transcription	Pancreas	Pancrea
15	chr1:211566800-211574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:211566800-211576800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:211567000-211574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:211567000-211581600	Weak transcription	Gastric	stomach
19	chr1:211568200-211575000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:211569000-211576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:211570000-211574800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:211570000-211575000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:211570200-211574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:211570800-211581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:211571600-211573800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:211571600-211573800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:211571800-211574400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:211572000-211573800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:211572000-211573800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:211572000-211574800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:211572400-211575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:211572600-211575400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:211572800-211573800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:211573000-211574000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:211573000-211574200	Enhancers	Primary B cells from cord blood	blood
36	chr1:211573000-211574400	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:211573200-211573800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:211573200-211573800	Strong transcription	Ovary	ovary
39	chr1:211573200-211574800	Weak transcription	Placenta	Placenta
40	chr1:211573400-211573800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:211573600-211573800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:211573600-211573800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:211573600-211574000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:211573600-211574400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:211573600-211574400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:211573600-211574600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:211573600-211574600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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