Variant report

Variant	rs1168122
Chromosome Location	chr1:63143166-63143167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63140831..63143543-chr1:63152507..63154654,2	MCF-7	breast:
2	chr1:63139232..63141601-chr1:63141772..63144186,2	K562	blood:
3	chr1:63134723..63136885-chr1:63143027..63144543,2	MCF-7	breast:
4	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	Chromatin interaction
ENSG00000116641	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1168115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs943698	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
2	chr1:63107600-63147800	Weak transcription	NHEK	skin
3	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
4	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
6	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
7	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
13	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:63123000-63147800	Weak transcription	Gastric	stomach
15	chr1:63126800-63147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:63128800-63147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:63133000-63147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:63137400-63147800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:63138400-63151000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:63138600-63150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:63138800-63148200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:63138800-63150000	Weak transcription	Stomach Mucosa	stomach
26	chr1:63140800-63143200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:63140800-63148000	Weak transcription	Brain Germinal Matrix	brain
28	chr1:63141200-63143200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:63141400-63144000	Weak transcription	Lung	lung
30	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:63141600-63143400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:63141600-63149000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:63141800-63143200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:63142000-63143200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr1:63142000-63145000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:63142000-63147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:63142200-63143200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:63142200-63143200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:63142200-63143200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:63142200-63143200	Enhancers	K562	blood
41	chr1:63142200-63143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:63142200-63143400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:63142200-63143400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:63142200-63145400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:63142400-63143200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:63142400-63143200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:63142400-63143200	Enhancers	HSMM	muscle
48	chr1:63142400-63143400	Enhancers	NH-A	brain
49	chr1:63142400-63143400	Enhancers	Osteobl	bone
50	chr1:63142600-63143200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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