Variant report

Variant	rs17118022
Chromosome Location	chr1:85411357-85411358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85410272..85411869-chr1:85493014..85494336,19	MCF-7	breast:
2	chr1:85411165..85413303-chr1:85416818..85418943,2	K562	blood:
3	chr1:85403163..85404849-chr1:85410695..85412428,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2025597	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85402000-85419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85405000-85413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:85405200-85413000	Weak transcription	Esophagus	oesophagus
4	chr1:85406800-85412000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:85410400-85411400	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:85410400-85412000	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:85410400-85413800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85410600-85411400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:85410600-85411400	Active TSS	Primary hematopoietic stem cells	blood
10	chr1:85410600-85411400	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:85410600-85411400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:85410600-85411400	Active TSS	Brain Anterior Caudate	brain
13	chr1:85410600-85411400	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:85410600-85411400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:85410600-85411400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:85410600-85411400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:85410600-85411400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:85410600-85411400	Active TSS	Thymus	Thymus
19	chr1:85410600-85411400	Active TSS	A549	lung
20	chr1:85410600-85411400	Flanking Active TSS	HUVEC	blood vessel
21	chr1:85410600-85411800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:85410600-85412600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:85410600-85413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:85410800-85411400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:85410800-85411400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:85410800-85411400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:85410800-85411400	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr1:85410800-85411400	Active TSS	Primary T cells from cord blood	blood
29	chr1:85410800-85411400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:85410800-85411400	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:85410800-85411400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:85410800-85411400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:85410800-85411400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:85410800-85411400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:85410800-85411400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:85410800-85411400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:85410800-85411400	Active TSS	Liver	Liver
38	chr1:85410800-85411400	Active TSS	Colon Smooth Muscle	Colon
39	chr1:85410800-85411400	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:85410800-85411400	Active TSS	Fetal Intestine Large	intestine
41	chr1:85410800-85411400	Active TSS	Fetal Kidney	kidney
42	chr1:85410800-85411400	Active TSS	Fetal Lung	lung
43	chr1:85410800-85411400	Active TSS	Fetal Muscle Leg	muscle
44	chr1:85410800-85411400	Active TSS	Fetal Stomach	stomach
45	chr1:85410800-85411400	Active TSS	Fetal Thymus	thymus
46	chr1:85410800-85411400	Active TSS	Ovary	ovary
47	chr1:85410800-85411400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:85410800-85411400	Active TSS	Right Atrium	heart
49	chr1:85410800-85411400	Active TSS	GM12878-XiMat	blood
50	chr1:85410800-85411400	Flanking Active TSS	HMEC	breast

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