Variant report

Variant	rs4970995
Chromosome Location	chr1:150506159-150506160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150505847..150507541-chr1:150516377..150518436,3	K562	blood:
2	chr1:150501374..150507870-chr1:150516377..150523612,9	K562	blood:
3	chr1:150457403..150459497-chr1:150504358..150506324,2	MCF-7	breast:
4	chr1:150505075..150507368-chr1:150509806..150511518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2055974	1.00[EUR][1000 genomes]
rs4971048	1.00[EUR][1000 genomes]
rs6662183	1.00[EUR][1000 genomes]
rs945715	1.00[AMR][1000 genomes];1.00[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150502000-150510800	Weak transcription	Aorta	Aorta
2	chr1:150502200-150506400	Weak transcription	Right Atrium	heart
3	chr1:150504000-150507000	Enhancers	Fetal Intestine Large	intestine
4	chr1:150504200-150506600	Enhancers	Stomach Mucosa	stomach
5	chr1:150504200-150506800	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:150504200-150507000	Enhancers	Fetal Intestine Small	intestine
7	chr1:150504200-150507000	Enhancers	HMEC	breast
8	chr1:150504200-150507600	Enhancers	Colonic Mucosa	Colon
9	chr1:150504200-150511200	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:150504200-150511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:150504600-150507000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:150504600-150511600	Enhancers	Fetal Muscle Leg	muscle
13	chr1:150504800-150507000	Enhancers	HSMMtube	muscle
14	chr1:150504800-150507000	Enhancers	NHEK	skin
15	chr1:150505000-150507000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:150505200-150506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:150505200-150508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:150505400-150506400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:150505400-150506800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:150505400-150506800	Enhancers	Right Ventricle	heart
21	chr1:150505600-150507400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:150505600-150507400	Weak transcription	NHDF-Ad	bronchial
23	chr1:150505600-150508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:150505600-150508400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:150505600-150508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:150505600-150510200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:150505600-150510600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:150505600-150510600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:150505600-150511600	Enhancers	HepG2	liver
30	chr1:150505600-150511800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:150505600-150516000	Weak transcription	Fetal Stomach	stomach
32	chr1:150505600-150516200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:150505800-150506600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:150505800-150506600	Weak transcription	Small Intestine	intestine
36	chr1:150505800-150506800	Weak transcription	HSMM	muscle
37	chr1:150505800-150507000	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:150505800-150507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:150505800-150507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:150505800-150507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:150505800-150507400	Weak transcription	Osteobl	bone
42	chr1:150505800-150507600	Weak transcription	Brain Anterior Caudate	brain
43	chr1:150505800-150507800	Weak transcription	NHLF	lung
44	chr1:150505800-150508000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:150505800-150508000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:150505800-150508000	Weak transcription	NH-A	brain
47	chr1:150505800-150508200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:150505800-150508200	Weak transcription	Gastric	stomach
49	chr1:150505800-150508200	Weak transcription	Left Ventricle	heart
50	chr1:150505800-150508200	Weak transcription	A549	lung

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