Variant report

Variant	rs34307129
Chromosome Location	chr1:161275729-161275730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161275235..161277911-chr1:161283525..161285261,2	MCF-7	breast:
2	chr1:161252880..161255836-chr1:161273696..161275808,2	MCF-7	breast:
3	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:

Variant related genes	Relation type
ENSG00000143252	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000158882	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11588371	0.81[EUR][1000 genomes]
rs12138659	1.00[AFR][1000 genomes]
rs4272645	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv517826	chr1:161263380-161277601	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr1:161273800-161276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:161274200-161276200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:161274200-161276200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:161274200-161276200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:161274400-161276200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:161274400-161276200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:161274400-161276200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:161274400-161276200	Active TSS	GM12878-XiMat	blood
9	chr1:161274400-161276400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:161274400-161276400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:161274800-161275800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr1:161274800-161275800	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr1:161274800-161276000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:161274800-161276200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:161274800-161276200	Enhancers	Fetal Heart	heart
16	chr1:161274800-161276200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:161274800-161276400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr1:161274800-161276400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:161274800-161276400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:161274800-161276400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:161274800-161276600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:161275000-161275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:161275000-161276000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:161275000-161276200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:161275000-161276200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:161275000-161276200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:161275000-161276200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr1:161275000-161276200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:161275000-161276200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr1:161275000-161276200	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:161275000-161276400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:161275000-161276400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:161275000-161276400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:161275000-161276400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:161275000-161276400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:161275000-161276400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:161275200-161275800	Active TSS	HMEC	breast
38	chr1:161275200-161276000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:161275200-161276000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:161275200-161276000	Active TSS	Brain Anterior Caudate	brain
41	chr1:161275200-161276000	Active TSS	Lung	lung
42	chr1:161275200-161276200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:161275200-161276200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:161275200-161276200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:161275200-161276200	Flanking Active TSS	Placenta	Placenta
46	chr1:161275200-161276200	Active TSS	Gastric	stomach
47	chr1:161275200-161276200	Active TSS	NHDF-Ad	bronchial
48	chr1:161275200-161276400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:161275200-161276400	Active TSS	Aorta	Aorta
50	chr1:161275200-161276400	Active TSS	Psoas Muscle	Psoas

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