Variant report

Variant	rs10449313
Chromosome Location	chr1:211643017-211643018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211642856..211644070-chr1:211828245..211829170,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1055565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1084981	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863888	0.92[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs10863895	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11580084	0.96[CEU][hapmap]
rs12027724	0.96[CEU][hapmap]
rs12116749	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1533217	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1663522	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2063569	0.81[EUR][1000 genomes]
rs2798559	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2920908	0.89[EUR][1000 genomes]
rs2920911	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3002258	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3738199	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs3767377	0.96[CEU][hapmap]
rs3767378	0.96[CEU][hapmap]
rs4951520	0.95[CEU][hapmap]
rs4951523	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs4951741	0.87[EUR][1000 genomes]
rs4951742	0.87[EUR][1000 genomes]
rs6667740	0.86[EUR][1000 genomes]
rs6689078	0.81[CEU][hapmap]
rs6703361	0.87[EUR][1000 genomes]
rs7520989	0.96[CEU][hapmap]
rs7550702	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs784369	0.94[EUR][1000 genomes]
rs784379	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs784382	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs784383	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs784385	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs784389	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211641000-211643400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211641000-211643800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:211641000-211644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:211641000-211644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:211641200-211643200	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:211641400-211643800	Enhancers	HUVEC	blood vessel
7	chr1:211642200-211643200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:211642400-211643400	Weak transcription	Left Ventricle	heart
9	chr1:211642400-211644000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:211642600-211643800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:211642800-211643800	Enhancers	Adipose Nuclei	Adipose
12	chr1:211642800-211643800	Enhancers	Brain Anterior Caudate	brain
13	chr1:211642800-211643800	Enhancers	Psoas Muscle	Psoas
14	chr1:211643000-211643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:211643000-211643200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:211643000-211643200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:211643000-211643200	Enhancers	A549	lung
18	chr1:211643000-211643400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:211643000-211643400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:211643000-211643400	Enhancers	Right Atrium	heart
21	chr1:211643000-211643600	Enhancers	Brain Angular Gyrus	brain
22	chr1:211643000-211643600	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:211643000-211643600	Enhancers	Spleen	Spleen
24	chr1:211643000-211643600	Bivalent Enhancer	HepG2	liver
25	chr1:211643000-211643800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:211643000-211643800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:211643000-211643800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:211643000-211643800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:211643000-211643800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:211643000-211643800	Enhancers	Brain Substantia Nigra	brain
31	chr1:211643000-211643800	Enhancers	Colon Smooth Muscle	Colon
32	chr1:211643000-211643800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:211643000-211643800	Enhancers	Gastric	stomach
34	chr1:211643000-211643800	Enhancers	Lung	lung
35	chr1:211643000-211643800	Enhancers	Pancreas	Pancrea
36	chr1:211643000-211643800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:211643000-211644000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:211643000-211644000	Enhancers	Liver	Liver

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