Variant report

Variant	rs11945169
Chromosome Location	chr4:87959257-87959258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87855920..87858337-chr4:87956894..87959736,2	K562	blood:
2	chr4:87953334..87957046-chr4:87958598..87961763,4	K562	blood:
3	chr4:87944684..87947564-chr4:87957551..87959550,2	MCF-7	breast:
4	chr4:87952663..87956832-chr4:87958320..87961763,4	K562	blood:
5	chr4:87947975..87950419-chr4:87957844..87960013,2	K562	blood:
6	chr4:87926892..87929968-chr4:87957011..87960890,5	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048482	0.86[AFR][1000 genomes]
rs11930536	1.00[AMR][1000 genomes]
rs11937587	1.00[AMR][1000 genomes]
rs11939722	1.00[AMR][1000 genomes]
rs11943683	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947276	1.00[AMR][1000 genomes]
rs17012253	0.90[ASW][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap]
rs17012288	1.00[AMR][1000 genomes]
rs28567446	1.00[AMR][1000 genomes]
rs6810606	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs6810840	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs6827682	0.90[ASW][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs6831823	1.00[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833094	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851927	0.82[AFR][1000 genomes]
rs6856436	1.00[AMR][1000 genomes]
rs6857010	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659431	1.00[AMR][1000 genomes]
rs7671609	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7676368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676669	1.00[AMR][1000 genomes]
rs7677039	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7677287	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
3	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:87949400-87960600	Enhancers	Liver	Liver
5	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:87950000-87960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:87951800-87960400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:87952400-87960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:87952400-87960400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:87952600-87961000	Enhancers	K562	blood
14	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:87952800-87961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:87953000-87960800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:87953600-87960600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:87953600-87961000	Enhancers	Fetal Lung	lung
21	chr4:87953800-87959800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:87953800-87961600	Enhancers	Brain Substantia Nigra	brain
23	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:87954200-87960000	Enhancers	Brain Cingulate Gyrus	brain
25	chr4:87954400-87959600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:87954600-87959600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:87954600-87959600	Enhancers	NHDF-Ad	bronchial
28	chr4:87954600-87961200	Enhancers	Adipose Nuclei	Adipose
29	chr4:87954600-87961600	Enhancers	Brain Angular Gyrus	brain
30	chr4:87954600-87962200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
33	chr4:87954800-87961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:87955200-87959800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:87955400-87959600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:87955400-87960200	Enhancers	Brain Hippocampus Middle	brain
37	chr4:87955400-87960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:87955600-87959600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:87955600-87959600	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:87955600-87960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:87955600-87960000	Weak transcription	Colonic Mucosa	Colon
42	chr4:87955600-87962200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:87955600-87962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:87955600-87962400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:87955600-87964800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:87956400-87960000	Weak transcription	Gastric	stomach
47	chr4:87956600-87959400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:87956800-87960800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:87956800-87960800	Enhancers	Primary B cells from cord blood	blood
50	chr4:87956800-87960800	Enhancers	Primary B cells from peripheral blood	blood

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