Variant report

Variant	rs16837423
Chromosome Location	chr1:150502001-150502002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150501793..150504711-chr1:150513734..150516290,2	K562	blood:
2	chr1:150488140..150491206-chr1:150500619..150504753,4	MCF-7	breast:
3	chr1:150488378..150490694-chr1:150500940..150503568,2	MCF-7	breast:
4	chr1:150500611..150502292-chr1:150503281..150505329,2	MCF-7	breast:
5	chr1:150501374..150507870-chr1:150516377..150523612,9	K562	blood:
6	chr1:150457900..150460824-chr1:150500299..150502024,2	K562	blood:
7	chr1:150501937..150505214-chr1:150520640..150523168,3	K562	blood:
8	chr1:150500841..150504697-chr1:150532834..150535125,4	MCF-7	breast:
9	chr1:150501517..150504041-chr1:150506936..150508812,2	K562	blood:
10	chr1:150501793..150504711-chr1:150513660..150516290,3	K562	blood:
11	chr1:150484449..150486670-chr1:150500948..150502943,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143382	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16837756	1.00[AMR][1000 genomes]
rs16840413	1.00[AMR][1000 genomes]
rs28678181	1.00[AMR][1000 genomes]
rs58419916	1.00[AMR][1000 genomes]
rs834226	1.00[YRI][hapmap];1.00[AMR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
2	chr1:150499800-150502800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:150500000-150502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:150500200-150502200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:150500200-150502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:150500200-150502600	Enhancers	Osteobl	bone
7	chr1:150500400-150502200	Enhancers	HSMM	muscle
8	chr1:150500400-150502200	Enhancers	NH-A	brain
9	chr1:150500400-150502600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:150500400-150502600	Enhancers	NHDF-Ad	bronchial
11	chr1:150500400-150503200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:150500600-150504800	Weak transcription	NHLF	lung
13	chr1:150500600-150505000	Weak transcription	Fetal Stomach	stomach
14	chr1:150500800-150504800	Weak transcription	A549	lung
15	chr1:150500800-150505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:150501200-150502600	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:150501200-150502600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:150501400-150504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:150501600-150502200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:150501600-150502600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:150501600-150502600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:150501800-150502200	Enhancers	Right Atrium	heart
23	chr1:150501800-150504800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:150502000-150502200	Enhancers	HepG2	liver
25	chr1:150502000-150503600	Enhancers	Stomach Mucosa	stomach
26	chr1:150502000-150504000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:150502000-150504200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:150502000-150504200	Weak transcription	Brain Anterior Caudate	brain
29	chr1:150502000-150504200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:150502000-150504200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:150502000-150504200	Weak transcription	Pancreas	Pancrea
32	chr1:150502000-150504200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:150502000-150504200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:150502000-150504200	Weak transcription	HMEC	breast
35	chr1:150502000-150504600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:150502000-150504600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:150502000-150504600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:150502000-150504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:150502000-150504800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:150502000-150504800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:150502000-150504800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:150502000-150504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:150502000-150504800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:150502000-150504800	Weak transcription	Psoas Muscle	Psoas
45	chr1:150502000-150504800	Weak transcription	HSMMtube	muscle
46	chr1:150502000-150504800	Weak transcription	NHEK	skin
47	chr1:150502000-150505000	Weak transcription	Brain Germinal Matrix	brain
48	chr1:150502000-150505000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:150502000-150505200	Weak transcription	Esophagus	oesophagus
50	chr1:150502000-150505200	Weak transcription	Hela-S3	cervix

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