Variant report

Variant	rs4694587
Chromosome Location	chr4:73924416-73924417
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	chr4:73921587..73923229-chr4:73923461..73925987,2	K562	blood:
2	chr4:73922534..73925184-chr4:73933484..73935543,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16849186	1.00[ASW][hapmap]
rs16849187	0.90[YRI][hapmap]
rs16849196	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs16849198	1.00[ASW][hapmap]
rs4694586	0.97[AFR][1000 genomes]
rs6858428	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs7660291	0.97[AFR][1000 genomes]
rs7694865	1.00[ASW][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr4:73911400-73924600	Weak transcription	Pancreas	Pancrea
2	chr4:73915200-73925600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:73917200-73931000	Weak transcription	Fetal Heart	heart
4	chr4:73917200-73933800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:73917400-73932000	Weak transcription	Psoas Muscle	Psoas
6	chr4:73917800-73924600	Weak transcription	Esophagus	oesophagus
7	chr4:73918000-73924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:73918000-73924800	Weak transcription	NHEK	skin
9	chr4:73918600-73933000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:73918800-73930200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr4:73918800-73932200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:73918800-73933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:73919000-73926000	Strong transcription	Thymus	Thymus
14	chr4:73919000-73928600	Strong transcription	Fetal Intestine Large	intestine
15	chr4:73919000-73931400	Strong transcription	Liver	Liver
16	chr4:73919000-73932000	Strong transcription	Fetal Thymus	thymus
17	chr4:73919000-73932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:73919000-73932800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:73919200-73928000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:73919200-73928200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:73919200-73930200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:73919200-73931200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:73919200-73931200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:73919200-73932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:73919400-73929200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:73919400-73929400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:73919400-73930600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:73919600-73931600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:73920000-73928000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:73920200-73931400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:73920400-73928200	Strong transcription	HSMM	muscle
32	chr4:73920400-73929600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:73920400-73930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:73920600-73926200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr4:73920600-73928000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:73920600-73928000	Strong transcription	Osteobl	bone
37	chr4:73920600-73928200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:73920600-73930400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:73920600-73930600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:73920600-73930600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:73920600-73932400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:73920800-73925200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:73920800-73926600	Strong transcription	Colon Smooth Muscle	Colon
44	chr4:73920800-73930000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:73920800-73931400	Strong transcription	Dnd41	blood
46	chr4:73920800-73931800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:73920800-73934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:73921000-73927200	Strong transcription	Left Ventricle	heart
49	chr4:73921000-73927400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr4:73921000-73928000	Strong transcription	Fetal Kidney	kidney

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