Variant report

Variant	rs6741519
Chromosome Location	chr2:32531681-32531682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:
2	chr2:32530589..32533146-chr2:32542840..32545363,2	K562	blood:
3	chr2:32531197..32533146-chr2:32542840..32545023,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55665681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57272947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785665	0.86[AFR][1000 genomes]
rs59398369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675286	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60123798	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61119054	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61376890	0.84[EUR][1000 genomes]
rs61754192	1.00[ASN][1000 genomes]
rs61754198	0.83[EUR][1000 genomes]
rs6737177	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6755587	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798713	1.00[ASN][1000 genomes]
rs72855961	0.83[EUR][1000 genomes]
rs72855966	0.83[EUR][1000 genomes]
rs72855982	0.83[EUR][1000 genomes]
rs72865559	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865564	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865565	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865567	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865568	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865581	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865589	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865596	1.00[ASN][1000 genomes]
rs72865597	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867203	0.84[AFR][1000 genomes]
rs72867205	0.84[AFR][1000 genomes]
rs72867223	0.92[EUR][1000 genomes]
rs72867248	0.88[AFR][1000 genomes]
rs72867278	0.83[EUR][1000 genomes]
rs72867287	0.83[EUR][1000 genomes]
rs7577981	1.00[ASW][hapmap];0.85[LWK][hapmap];0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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 miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
4	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
5	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
8	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
9	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:32515000-32533400	Weak transcription	NHLF	lung
11	chr2:32515400-32538800	Weak transcription	NHEK	skin
12	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:32516400-32531800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
16	chr2:32519200-32533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:32520200-32533000	Strong transcription	Fetal Thymus	thymus
18	chr2:32520200-32533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:32520800-32532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:32520800-32533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:32521000-32532800	Strong transcription	Placenta	Placenta
26	chr2:32521000-32535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:32521000-32554600	Weak transcription	Ovary	ovary
28	chr2:32521200-32533600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:32521600-32532800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
31	chr2:32522200-32533400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:32522800-32533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:32523200-32533600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:32523400-32547200	Weak transcription	NH-A	brain
35	chr2:32524200-32532600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:32524200-32532800	Strong transcription	Fetal Intestine Large	intestine
37	chr2:32524400-32533000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:32524600-32532800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:32525000-32537400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:32525200-32532600	Strong transcription	HepG2	liver
41	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:32526200-32533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:32526600-32531800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:32526600-32533800	Weak transcription	K562	blood
45	chr2:32526600-32534200	Weak transcription	HUVEC	blood vessel
46	chr2:32526600-32536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:32526600-32537000	Weak transcription	HMEC	breast
48	chr2:32526600-32541800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:32526800-32531800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:32526800-32531800	Weak transcription	A549	lung

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