Variant report

Variant	rs73478639
Chromosome Location	chr11:57310571-57310572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:

Variant related genes	Relation type
ENSG00000134809	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs36112164	1.00[AFR][1000 genomes]
rs58330345	1.00[AFR][1000 genomes]
rs58516757	1.00[AFR][1000 genomes]
rs61546978	1.00[AFR][1000 genomes]
rs73478616	1.00[AFR][1000 genomes]
rs73478628	1.00[AFR][1000 genomes]
rs73478629	1.00[AFR][1000 genomes]
rs73478635	1.00[AFR][1000 genomes]
rs73478647	1.00[AFR][1000 genomes]
rs73478654	1.00[AFR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57298800-57319200	Weak transcription	Small Intestine	intestine
2	chr11:57299000-57314000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:57299000-57317000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:57299000-57317200	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:57299000-57317400	Weak transcription	Fetal Brain Male	brain
6	chr11:57299200-57313600	Weak transcription	Fetal Thymus	thymus
7	chr11:57299200-57314200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:57299200-57314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:57299200-57316200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:57299200-57317200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:57299200-57333000	Weak transcription	Right Atrium	heart
12	chr11:57299400-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:57299400-57313600	Weak transcription	Liver	Liver
14	chr11:57299400-57314000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:57299400-57314000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:57299400-57314000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:57299400-57314000	Weak transcription	GM12878-XiMat	blood
18	chr11:57299400-57314200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:57299400-57317200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:57300000-57310600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:57300000-57313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:57304800-57314800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:57305400-57310600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:57305600-57310600	Weak transcription	Fetal Stomach	stomach
25	chr11:57306000-57310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:57306000-57313600	Weak transcription	Lung	lung
27	chr11:57306000-57315000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:57306800-57315000	Weak transcription	Gastric	stomach
29	chr11:57307200-57314600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:57307200-57333600	Weak transcription	HMEC	breast
31	chr11:57307400-57313200	Weak transcription	Dnd41	blood
32	chr11:57307400-57313400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:57307400-57313400	Weak transcription	Spleen	Spleen
34	chr11:57307400-57314000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:57307400-57314600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:57307600-57313000	Weak transcription	Thymus	Thymus
37	chr11:57307600-57313600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:57307800-57314000	Weak transcription	Primary T cells from cord blood	blood
39	chr11:57308000-57313600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:57308000-57314000	Weak transcription	Brain Anterior Caudate	brain
41	chr11:57308200-57310600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:57309000-57310600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:57309200-57333400	Weak transcription	Psoas Muscle	Psoas
44	chr11:57309800-57311400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr11:57310000-57310800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:57310000-57311600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:57310000-57311600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:57310000-57311600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:57310000-57312400	Strong transcription	Brain Germinal Matrix	brain
50	chr11:57310200-57311200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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