Variant report

Variant	rs6433983
Chromosome Location	chr2:153204732-153204733
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	chr2:153196103..153199228-chr2:153200981..153204897,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10432492	0.82[CEU][hapmap]
rs11687067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151851	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12618892	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16831021	0.87[YRI][hapmap]
rs17398773	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4254462	1.00[YRI][hapmap]
rs4274556	0.81[CEU][hapmap]
rs4442949	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4444472	0.82[EUR][1000 genomes]
rs56220036	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6715038	0.88[AMR][1000 genomes]
rs6734534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757784	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757877	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565316	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
3	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
4	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
5	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153194600-153206400	Weak transcription	Lung	lung
8	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:153194600-153214600	Weak transcription	Gastric	stomach
12	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
14	chr2:153197000-153207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:153198000-153205800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:153198000-153206200	Weak transcription	Fetal Brain Male	brain
19	chr2:153198000-153206200	Genic enhancers	HepG2	liver
20	chr2:153198000-153207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
23	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
25	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:153200600-153204800	Weak transcription	Adipose Nuclei	Adipose
28	chr2:153200600-153205200	Enhancers	Brain Hippocampus Middle	brain
29	chr2:153200600-153210400	Weak transcription	Ovary	ovary
30	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:153200800-153209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:153200800-153210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153200800-153210400	Weak transcription	NHDF-Ad	bronchial
34	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
35	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
36	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
38	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:153201000-153205800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:153201400-153204800	Weak transcription	A549	lung
41	chr2:153201400-153206200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:153201600-153208400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
44	chr2:153202000-153206400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:153202200-153206200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:153202400-153211000	Weak transcription	NHEK	skin
47	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
48	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:153203000-153206800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach

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