Variant report

Variant	rs9961608
Chromosome Location	chr18:29259129-29259130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29259001..29261313-chr18:29272206..29274958,2	MCF-7	breast:
2	chr18:29257336..29259422-chr18:29266158..29267928,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57729298	0.84[AFR][1000 genomes]
rs60662419	0.81[AFR][1000 genomes]
rs6506937	0.93[YRI][hapmap]
rs9950895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960668	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253400-29259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:29253400-29259800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29253400-29260000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:29253600-29260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:29255600-29260000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr18:29257200-29260400	Weak transcription	Fetal Brain Female	brain
10	chr18:29257200-29261600	Flanking Active TSS	GM12878-XiMat	blood
11	chr18:29257400-29259400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:29257400-29259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:29257400-29260400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:29257400-29261000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:29257600-29260800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:29257600-29261000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr18:29257800-29259200	Enhancers	Hela-S3	cervix
18	chr18:29257800-29259800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr18:29257800-29261000	Enhancers	Gastric	stomach
20	chr18:29257800-29261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr18:29257800-29261800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr18:29258000-29259200	Enhancers	HMEC	breast
25	chr18:29258000-29260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:29258000-29260600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
28	chr18:29258200-29259400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:29258200-29260000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:29258200-29260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:29258200-29260800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr18:29258200-29261600	Enhancers	NHEK	skin
33	chr18:29258200-29262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
36	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
37	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
39	chr18:29258400-29261000	Enhancers	Stomach Mucosa	stomach
40	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
41	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
42	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:29258600-29259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:29258600-29259200	Enhancers	NH-A	brain
45	chr18:29258600-29259200	Enhancers	Osteobl	bone
46	chr18:29258600-29259400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr18:29258600-29259800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr18:29258600-29259800	Enhancers	NHDF-Ad	bronchial
49	chr18:29258600-29260400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr18:29258600-29261000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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