Variant report

Variant	rs2342693
Chromosome Location	chr16:47504983-47504984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47504741..47507121-chr16:47699160..47701122,2	K562	blood:
2	chr16:47500342..47506721-chr16:47514207..47520673,8	K562	blood:
3	chr16:47464879..47466397-chr16:47504717..47506667,2	K562	blood:
4	chr16:47503547..47505420-chr16:47506732..47508518,2	K562	blood:
5	chr16:47503725..47506287-chr16:47510577..47512512,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1200969	0.80[AFR][1000 genomes]
rs12719742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12920938	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1420669	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41427947	1.00[EUR][1000 genomes]
rs41438546	1.00[EUR][1000 genomes]
rs4967849	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55915748	1.00[EUR][1000 genomes]
rs56026849	1.00[EUR][1000 genomes]
rs57434681	1.00[EUR][1000 genomes]
rs58917857	1.00[EUR][1000 genomes]
rs60269785	1.00[EUR][1000 genomes]
rs61351980	1.00[EUR][1000 genomes]
rs74016205	1.00[EUR][1000 genomes]
rs74016206	1.00[EUR][1000 genomes]
rs8053095	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 target site	9 gene(s)	inside rSNPs	diseases
10	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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 target site	14 gene(s)	inside rSNPs	diseases
13	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:47496200-47526400	Weak transcription	Pancreas	Pancrea
3	chr16:47496200-47532000	Weak transcription	Ovary	ovary
4	chr16:47496200-47538400	Weak transcription	NH-A	brain
5	chr16:47496400-47506200	Weak transcription	Fetal Thymus	thymus
6	chr16:47496400-47512000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:47496400-47523400	Weak transcription	Fetal Lung	lung
8	chr16:47496600-47509800	Weak transcription	Lung	lung
9	chr16:47496600-47522600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:47497000-47522400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:47497200-47511400	Weak transcription	NHLF	lung
12	chr16:47497200-47515600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:47497200-47521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:47497800-47509800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:47498200-47509800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:47498200-47517600	Weak transcription	A549	lung
17	chr16:47498200-47527800	Weak transcription	Small Intestine	intestine
18	chr16:47498400-47509400	Weak transcription	Osteobl	bone
19	chr16:47498400-47521400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:47498400-47521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:47498400-47526000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:47498600-47506600	Weak transcription	HUVEC	blood vessel
23	chr16:47498600-47518200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:47498800-47507000	Weak transcription	Fetal Brain Female	brain
25	chr16:47498800-47510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:47498800-47516600	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:47498800-47517400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:47498800-47526400	Weak transcription	Esophagus	oesophagus
29	chr16:47499000-47517200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:47499000-47526400	Weak transcription	Fetal Stomach	stomach
31	chr16:47499400-47509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:47499400-47515600	Weak transcription	Primary T cells from cord blood	blood
33	chr16:47499400-47517800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr16:47499400-47518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:47499400-47523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:47499600-47508200	Weak transcription	Brain Angular Gyrus	brain
37	chr16:47500200-47512800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:47500200-47512800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:47500200-47517800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:47500400-47505600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:47500400-47506400	Strong transcription	Primary B cells from cord blood	blood
42	chr16:47500400-47510800	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:47500400-47512800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr16:47500400-47515600	Weak transcription	Liver	Liver
45	chr16:47500400-47520400	Weak transcription	Brain Germinal Matrix	brain
46	chr16:47500400-47521400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:47500400-47521600	Weak transcription	Dnd41	blood
48	chr16:47501800-47506600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr16:47501800-47509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:47501800-47510800	Weak transcription	NHDF-Ad	bronchial

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