Variant report

Variant	rs34418448
Chromosome Location	chr1:211570581-211570582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211565165..211567494-chr1:211569278..211571043,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1046690	1.00[CHB][hapmap]
rs11119741	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11576833	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577134	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579228	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11580728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12565472	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12567023	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12733930	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739630	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740755	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750157	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752670	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs12758491	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189000	0.82[ASW][hapmap]
rs17267554	0.90[CHB][hapmap]
rs17267561	0.90[CHB][hapmap]
rs2280079	0.82[ASW][hapmap];0.90[CHB][hapmap]
rs34160213	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34221813	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34535031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35014256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332498	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699165	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771425	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3738200	0.82[ASW][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs4320839	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961005	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60555365	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848984	0.81[AMR][1000 genomes]
rs72743233	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

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	chr1:211557000-211571400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:211557000-211572400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:211557000-211573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
8	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
11	chr1:211557200-211571000	Weak transcription	Fetal Lung	lung
12	chr1:211557200-211572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:211557200-211573400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:211557400-211570600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:211557400-211570600	Weak transcription	Osteobl	bone
16	chr1:211557400-211571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:211557400-211571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:211557400-211571600	Weak transcription	Fetal Heart	heart
19	chr1:211557400-211572800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:211557400-211572800	Weak transcription	K562	blood
21	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:211557600-211571400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:211557600-211573400	Weak transcription	GM12878-XiMat	blood
27	chr1:211557600-211573400	Weak transcription	Hela-S3	cervix
28	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:211560800-211571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:211560800-211571400	Weak transcription	HSMMtube	muscle
31	chr1:211561600-211573000	Weak transcription	Right Ventricle	heart
32	chr1:211563400-211572000	Weak transcription	Primary T cells from cord blood	blood
33	chr1:211564400-211571400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:211564800-211570800	Weak transcription	Primary B cells from cord blood	blood
35	chr1:211565200-211573000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:211565600-211574000	Strong transcription	Liver	Liver
37	chr1:211566000-211571400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:211566200-211572800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:211566800-211572000	Weak transcription	Colonic Mucosa	Colon
40	chr1:211566800-211574600	Weak transcription	Pancreas	Pancrea
41	chr1:211566800-211574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:211566800-211576800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:211567000-211574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:211567000-211581600	Weak transcription	Gastric	stomach
45	chr1:211567600-211571200	Weak transcription	Aorta	Aorta
46	chr1:211568200-211573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:211568200-211575000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:211568400-211570800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:211568400-211571800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:211568400-211572000	Weak transcription	Fetal Stomach	stomach

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