Variant report

Variant	rs11932481
Chromosome Location	chr4:129002632-129002633
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129001965..129003636-chr4:129391600..129393451,2	K562	blood:

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11931833	0.80[YRI][hapmap]
rs11935232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935267	0.80[YRI][hapmap]
rs11939629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942042	0.89[YRI][hapmap]
rs17012926	0.80[YRI][hapmap];0.94[AFR][1000 genomes]
rs17012942	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012954	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2126113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4487359	0.90[YRI][hapmap]
rs57297662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767415	1.00[AMR][1000 genomes]
rs59664646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60096181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60995278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61373286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61662075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6836536	1.00[AMR][1000 genomes]
rs6844291	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	esv1829517	chr4:128982085-129012638	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
17	esv1831536	chr4:128982085-129012638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
18	nsv595392	chr4:128982085-129012638	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	22 gene(s)	inside rSNPs	diseases
19	nsv595393	chr4:128982137-129012638	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
20	esv1840969	chr4:128982254-129012181	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
21	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
22	nsv966318	chr4:129002157-129003389	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 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	chr4:128984200-129003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:128984200-129003200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:128984200-129003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:128984200-129018800	Weak transcription	A549	lung
8	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:128984200-129035200	Weak transcription	NHLF	lung
11	chr4:128984400-129003200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:128984400-129003200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:128984400-129012600	Weak transcription	Lung	lung
14	chr4:128984400-129013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:128984400-129013800	Weak transcription	NHEK	skin
16	chr4:128984400-129018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:128984400-129020000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:128986400-129014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:128986400-129019400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:128987200-129018200	Weak transcription	Psoas Muscle	Psoas
21	chr4:128990400-129007400	Weak transcription	Gastric	stomach
22	chr4:128990800-129013800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:128991000-129031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:128992800-129029000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
26	chr4:128993000-129003200	Weak transcription	Primary T cells from cord blood	blood
27	chr4:128993800-129012400	Weak transcription	HSMMtube	muscle
28	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:128994400-129009600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:128994400-129025200	Weak transcription	Aorta	Aorta
31	chr4:128994800-129031000	Weak transcription	HMEC	breast
32	chr4:128995600-129003200	Weak transcription	HSMM	muscle
33	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
34	chr4:128996000-129003200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:128996200-129002800	Strong transcription	Fetal Intestine Small	intestine
36	chr4:128996200-129003200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:128996200-129003600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:128996200-129003800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:128996200-129004000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:128996200-129004000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:128996200-129008400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:128996400-129003200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:128996400-129003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:128996400-129003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:128996400-129003800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:128996400-129003800	Strong transcription	Fetal Intestine Large	intestine
47	chr4:128996400-129004000	Strong transcription	Adipose Nuclei	Adipose
48	chr4:128996400-129004800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr4:128996600-129003800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:128996800-129002800	Weak transcription	Primary hematopoietic stem cells	blood

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