Variant report

Variant	rs17135042
Chromosome Location	chr5:112180873-112180874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
2	chr5:112089718..112092112-chr5:112180535..112183405,2	K562	blood:
3	chr5:112180772..112183270-chr5:112188278..112191041,2	K562	blood:
4	chr5:112180694..112183270-chr5:112188278..112192219,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10515448	1.00[AMR][1000 genomes]
rs17134860	1.00[AMR][1000 genomes]
rs17134884	1.00[AMR][1000 genomes]
rs17134956	1.00[AMR][1000 genomes]
rs17134989	1.00[AMR][1000 genomes]
rs17135165	1.00[AMR][1000 genomes]
rs17135166	1.00[AMR][1000 genomes]
rs17164137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464810	1.00[ASW][hapmap];0.84[YRI][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	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:112152000-112183800	Weak transcription	Gastric	stomach
4	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
5	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
7	chr5:112174000-112182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112174000-112182400	Weak transcription	Esophagus	oesophagus
9	chr5:112174000-112183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112174200-112181200	Weak transcription	Spleen	Spleen
11	chr5:112174200-112183800	Weak transcription	Hela-S3	cervix
12	chr5:112174400-112182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112174400-112183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:112174600-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:112174600-112184200	Weak transcription	Ovary	ovary
16	chr5:112174800-112183800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:112174800-112183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:112174800-112183800	Weak transcription	NHEK	skin
19	chr5:112175200-112183800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:112175400-112183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:112175400-112187600	Weak transcription	NHLF	lung
22	chr5:112175600-112182200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:112175600-112183800	Weak transcription	Psoas Muscle	Psoas
24	chr5:112175600-112183800	Weak transcription	GM12878-XiMat	blood
25	chr5:112175600-112184000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112175600-112184000	Weak transcription	Placenta	Placenta
27	chr5:112175800-112183600	Weak transcription	Liver	Liver
28	chr5:112175800-112183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:112175800-112183800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:112175800-112183800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:112175800-112183800	Weak transcription	A549	lung
32	chr5:112175800-112183800	Weak transcription	Dnd41	blood
33	chr5:112176000-112181600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:112176000-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:112176000-112183800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:112176200-112181600	Weak transcription	Fetal Heart	heart
37	chr5:112176200-112182000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:112176200-112182200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:112176200-112182400	Weak transcription	Pancreas	Pancrea
40	chr5:112176200-112183800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:112176200-112183800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:112176200-112183800	Weak transcription	HUVEC	blood vessel
43	chr5:112176200-112183800	Weak transcription	NH-A	brain
44	chr5:112176200-112183800	Weak transcription	Osteobl	bone
45	chr5:112176200-112184000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:112176400-112182200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:112176400-112182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:112176400-112182400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:112176400-112183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:112176400-112183800	Weak transcription	Primary T cells fromperipheralblood	blood

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