Variant report

Variant	rs1344849
Chromosome Location	chr4:20319549-20319550
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	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10516351	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805216	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10938788	0.94[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs10938793	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10938794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12233652	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12233914	0.83[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12508158	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511950	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12646142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12648551	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16869521	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16869526	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1853386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3945867	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4697157	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55911061	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58086451	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61333152	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66478358	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66615925	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66875143	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66960874	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66981451	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67264035	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67506381	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824589	0.86[EUR][1000 genomes]
rs6828506	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs72619155	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7680945	0.84[AMR][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	nsv593792	chr4:20275477-20362716	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv593793	chr4:20282334-20333722	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv878740	chr4:20292239-20333722	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20306200-20325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:20315600-20325600	Weak transcription	Lung	lung
3	chr4:20315600-20328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:20316000-20321800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:20317000-20322200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:20317000-20323400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:20318000-20321800	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:20318200-20319800	Enhancers	Osteobl	bone
9	chr4:20318600-20319800	Enhancers	Brain Anterior Caudate	brain
10	chr4:20318600-20321000	Enhancers	Brain Angular Gyrus	brain
11	chr4:20318600-20321800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:20318800-20320400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:20319000-20319600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:20319000-20319600	Enhancers	Colon Smooth Muscle	Colon
15	chr4:20319000-20319800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:20319000-20319800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:20319000-20320400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:20319000-20320400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:20319000-20320400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:20319000-20320400	Enhancers	Fetal Stomach	stomach
21	chr4:20319000-20320600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:20319000-20320800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:20319000-20320800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:20319000-20320800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:20319000-20322000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:20319000-20323200	Enhancers	Brain Substantia Nigra	brain
27	chr4:20319200-20319600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:20319200-20320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:20319200-20320400	Enhancers	Fetal Kidney	kidney
30	chr4:20319200-20320800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:20319200-20320800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:20319200-20320800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:20319200-20320800	Enhancers	Brain Germinal Matrix	brain
34	chr4:20319200-20323200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:20319400-20319600	Active TSS	NHDF-Ad	bronchial
36	chr4:20319400-20319800	Enhancers	Adipose Nuclei	Adipose
37	chr4:20319400-20319800	Enhancers	Fetal Lung	lung
38	chr4:20319400-20320000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:20319400-20320000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:20319400-20320000	Active TSS	NHLF	lung

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