Variant report

Variant	rs9958428
Chromosome Location	chr18:39547275-39547276
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	chr18:39546444..39548693-chr18:39549349..39550895,2	K562	blood:
2	chr18:39541005..39543575-chr18:39545049..39547363,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs558699	1.00[AMR][1000 genomes]
rs564870	1.00[AMR][1000 genomes]
rs8098491	1.00[AMR][1000 genomes]
rs9950019	1.00[AFR][1000 genomes]
rs9954143	1.00[AMR][1000 genomes]
rs9966164	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription 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	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS 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	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers 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	6 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	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39548000	Weak transcription	Colonic Mucosa	Colon
3	chr18:39536200-39552400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:39536200-39564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:39536400-39552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:39536400-39578200	Weak transcription	A549	lung
8	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:39537000-39547600	Weak transcription	Fetal Brain Male	brain
11	chr18:39537400-39552400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:39537400-39553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:39537400-39555800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:39537600-39552200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr18:39537600-39552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:39537600-39553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:39538600-39548400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:39539400-39548200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:39539600-39548200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:39540200-39548200	Strong transcription	K562	blood
21	chr18:39541600-39549600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:39542400-39548200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr18:39542400-39548200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr18:39542400-39551000	Strong transcription	Dnd41	blood
25	chr18:39542400-39552400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr18:39542600-39548400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr18:39542800-39547400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:39543400-39550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:39543600-39547800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:39543600-39549600	Weak transcription	Fetal Kidney	kidney
31	chr18:39543600-39550600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr18:39543600-39550600	Weak transcription	HUVEC	blood vessel
33	chr18:39544400-39552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:39544600-39548400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:39545000-39548000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr18:39545000-39548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:39545000-39548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr18:39545000-39548200	Strong transcription	Primary T cells from cord blood	blood
39	chr18:39545000-39549200	Strong transcription	Fetal Intestine Large	intestine
40	chr18:39545000-39551400	Strong transcription	Fetal Thymus	thymus
41	chr18:39545000-39552200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr18:39545000-39552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:39545200-39548200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr18:39545200-39548400	Enhancers	Brain Anterior Caudate	brain
45	chr18:39545200-39548400	Enhancers	Brain Cingulate Gyrus	brain
46	chr18:39545200-39548600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:39545200-39549200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr18:39545200-39550200	Enhancers	Brain Angular Gyrus	brain
49	chr18:39545200-39555600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:39545400-39548200	Strong transcription	Lung	lung

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