Variant report

Variant	rs11933302
Chromosome Location	chr4:87956920-87956921
allele	A/C
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	chr4:87927091..87929349-chr4:87954392..87957373,2	MCF-7	breast:
4	chr4:87926472..87930256-chr4:87951394..87957719,6	K562	blood:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11931688	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933026	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933097	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11936587	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012279	1.00[CEU][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28372291	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28544381	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs340647	1.00[CEU][hapmap]
rs340652	1.00[CEU][hapmap]
rs57785643	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs58016426	1.00[EUR][1000 genomes]
rs59030024	0.88[EUR][1000 genomes]
rs59188173	1.00[EUR][1000 genomes]
rs59830245	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61009470	1.00[EUR][1000 genomes]
rs6821413	0.88[EUR][1000 genomes]
rs6822432	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs6824639	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6834549	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6851332	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6855627	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7659244	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7680465	0.87[AFR][1000 genomes];1.00[EUR][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	chr4:87947800-87957200	Weak transcription	Dnd41	blood
4	chr4:87949200-87957400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:87949400-87960600	Enhancers	Liver	Liver
7	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:87949800-87957400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:87950000-87958600	Enhancers	Psoas Muscle	Psoas
11	chr4:87950000-87960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
13	chr4:87951000-87957800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:87951600-87959000	Enhancers	Fetal Intestine Large	intestine
15	chr4:87951800-87960400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:87952200-87957000	Weak transcription	Thymus	Thymus
17	chr4:87952400-87957600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:87952400-87957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:87952400-87960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:87952400-87960400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:87952600-87958800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:87952600-87961000	Enhancers	K562	blood
24	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:87952800-87961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:87953000-87960800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:87953400-87957600	Weak transcription	Fetal Brain Female	brain
28	chr4:87953400-87958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
30	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:87953600-87960600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:87953600-87961000	Enhancers	Fetal Lung	lung
33	chr4:87953800-87958800	Enhancers	Ovary	ovary
34	chr4:87953800-87958800	Enhancers	Right Atrium	heart
35	chr4:87953800-87959800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:87953800-87961600	Enhancers	Brain Substantia Nigra	brain
37	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:87954000-87957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:87954000-87958600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:87954000-87959000	Enhancers	Placenta	Placenta
41	chr4:87954000-87959000	Enhancers	Left Ventricle	heart
42	chr4:87954200-87960000	Enhancers	Brain Cingulate Gyrus	brain
43	chr4:87954400-87958600	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:87954400-87959600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr4:87954600-87959600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:87954600-87959600	Enhancers	NHDF-Ad	bronchial
47	chr4:87954600-87961200	Enhancers	Adipose Nuclei	Adipose
48	chr4:87954600-87961600	Enhancers	Brain Angular Gyrus	brain
49	chr4:87954600-87962200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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