Variant report

Variant	rs17012926
Chromosome Location	chr4:129024234-129024235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129018289..129019947-chr4:129023111..129025286,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11098941	1.00[AMR][1000 genomes]
rs11931314	1.00[ASW][hapmap]
rs11932481	0.80[YRI][hapmap];0.94[AFR][1000 genomes]
rs11934357	0.87[YRI][hapmap]
rs11935232	0.82[AFR][1000 genomes]
rs11935267	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap]
rs11938181	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs11939629	0.97[AFR][1000 genomes]
rs11941857	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs11942042	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs11947006	1.00[MKK][hapmap]
rs11947313	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs17012845	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs17012942	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap];0.97[AFR][1000 genomes]
rs17012954	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes]
rs2126113	0.97[AFR][1000 genomes]
rs4487359	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57297662	0.82[AFR][1000 genomes]
rs59664646	0.97[AFR][1000 genomes]
rs60096181	0.97[AFR][1000 genomes]
rs60995278	0.97[AFR][1000 genomes]
rs61373286	0.91[AFR][1000 genomes]
rs61662075	0.97[AFR][1000 genomes]
rs7673882	1.00[AMR][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	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS 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	32 gene(s)	inside rSNPs	diseases
7	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers 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	29 gene(s)	inside rSNPs	diseases
11	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
3	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
4	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:128984200-129035200	Weak transcription	NHLF	lung
7	chr4:128991000-129031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:128992800-129029000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
10	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:128994400-129025200	Weak transcription	Aorta	Aorta
12	chr4:128994800-129031000	Weak transcription	HMEC	breast
13	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
14	chr4:128997000-129025000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:128997000-129036800	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:128997000-129054200	Weak transcription	Right Ventricle	heart
17	chr4:128997400-129037400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:128997800-129029400	Weak transcription	Spleen	Spleen
19	chr4:128998400-129029000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:128999000-129032000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:129000200-129066600	Weak transcription	Colonic Mucosa	Colon
22	chr4:129002000-129030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:129003600-129078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:129003800-129031400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:129003800-129035200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:129003800-129047800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:129003800-129056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:129003800-129066400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:129007800-129076400	Weak transcription	Gastric	stomach
30	chr4:129009400-129032400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:129011600-129030200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:129012400-129029400	Weak transcription	Fetal Heart	heart
33	chr4:129013800-129026600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:129014200-129030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:129014400-129030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:129014400-129034200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:129014400-129051400	Weak transcription	Fetal Kidney	kidney
38	chr4:129014400-129066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:129016000-129024600	Strong transcription	Dnd41	blood
40	chr4:129016000-129026600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:129016000-129030800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:129016600-129048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:129017400-129024400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:129017400-129026000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:129017400-129026000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:129017600-129024600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:129017600-129024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:129017800-129026600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:129018000-129024400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:129018000-129031000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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