Variant report

Variant	rs32335
Chromosome Location	chr5:14205632-14205633
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14190934..14193452-chr5:14204987..14206665,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs13175673	1.00[CHB][hapmap]
rs13184211	1.00[CHB][hapmap]
rs13184670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299045	1.00[CHB][hapmap]
rs17299506	1.00[ASN][1000 genomes]
rs17302408	1.00[CHB][hapmap]
rs187125	1.00[CHB][hapmap]
rs187386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap]
rs245447	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245470	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26058	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs26059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28010	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	1.00[CHB][hapmap]
rs30617	1.00[CHB][hapmap]
rs30619	1.00[CHB][hapmap]
rs30620	1.00[CHB][hapmap]
rs32339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs354287	0.83[ASN][1000 genomes]
rs354288	1.00[ASN][1000 genomes]
rs354298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	1.00[CEU][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs354305	1.00[CHB][hapmap]
rs354310	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849082	1.00[CHB][hapmap]
rs397098	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	1.00[CHB][hapmap]
rs407517	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs533517	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706271	1.00[CHB][hapmap]
rs773701	1.00[CHB][hapmap]
rs773702	1.00[CHB][hapmap]
rs773703	1.00[CHB][hapmap]
rs773763	1.00[CHB][hapmap]
rs923616	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
2	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
3	chr5:14201400-14207000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14201600-14207000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:14202000-14207800	Enhancers	Small Intestine	intestine
6	chr5:14202200-14212600	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:14202600-14205800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14202600-14205800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:14203200-14205800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:14203200-14207800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr5:14203600-14206200	Enhancers	Fetal Intestine Small	intestine
12	chr5:14203800-14207800	Enhancers	Lung	lung
13	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
14	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:14204200-14207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:14204400-14205800	Enhancers	HSMM	muscle
17	chr5:14204400-14210400	Weak transcription	Fetal Heart	heart
18	chr5:14204600-14205800	Flanking Active TSS	HUVEC	blood vessel
19	chr5:14204600-14206200	Weak transcription	Spleen	Spleen
20	chr5:14204600-14207800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:14204600-14210000	Weak transcription	Placenta	Placenta
22	chr5:14205000-14206400	Enhancers	Colonic Mucosa	Colon
23	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:14205200-14206000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:14205200-14206200	Weak transcription	Esophagus	oesophagus
26	chr5:14205200-14206200	Weak transcription	Pancreas	Pancrea
27	chr5:14205200-14206600	Weak transcription	Right Ventricle	heart
28	chr5:14205200-14207400	Weak transcription	Gastric	stomach
29	chr5:14205200-14209600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:14205200-14210000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:14205200-14210400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:14205200-14210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:14205200-14211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:14205200-14212000	Weak transcription	Aorta	Aorta
35	chr5:14205400-14205800	Flanking Active TSS	A549	lung
36	chr5:14205400-14206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:14205400-14206200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:14205400-14206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:14205400-14206200	Enhancers	Osteobl	bone
40	chr5:14205400-14206600	Weak transcription	Fetal Lung	lung
41	chr5:14205400-14207000	Enhancers	Primary T cells from cord blood	blood
42	chr5:14205400-14207000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:14205400-14207400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:14205400-14207400	Weak transcription	Left Ventricle	heart
45	chr5:14205400-14207400	Weak transcription	Right Atrium	heart
46	chr5:14205400-14207600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:14205400-14207600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:14205400-14207600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:14205400-14207600	Weak transcription	Fetal Stomach	stomach
50	chr5:14205400-14207600	Weak transcription	Ovary	ovary

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