Variant report

Variant	rs73124895
Chromosome Location	chr1:222892282-222892283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222637442..222640298-chr1:222891368..222892871,2	K562	blood:
2	chr1:222885527..222888194-chr1:222889339..222892916,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73126816	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222887200-222899000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:222887200-222899000	Weak transcription	Esophagus	oesophagus
3	chr1:222887200-222909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:222887400-222892600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:222887400-222893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:222887400-222893000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:222887400-222895200	Weak transcription	Psoas Muscle	Psoas
8	chr1:222887400-222902200	Weak transcription	Fetal Heart	heart
9	chr1:222887400-222903600	Weak transcription	Aorta	Aorta
10	chr1:222887400-222904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:222887400-222908800	Weak transcription	Stomach Mucosa	stomach
12	chr1:222887400-222909600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:222887400-222912000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:222887600-222892600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:222887600-222892800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:222887600-222892800	Weak transcription	Ovary	ovary
17	chr1:222887600-222895600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:222887600-222896600	Weak transcription	Right Ventricle	heart
19	chr1:222887600-222903200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:222887600-222912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:222887800-222894200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:222888000-222909200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:222888200-222895200	Weak transcription	Left Ventricle	heart
24	chr1:222888200-222896600	Weak transcription	Pancreas	Pancrea
25	chr1:222888200-222899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:222888200-222899000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:222888200-222899800	Weak transcription	Gastric	stomach
28	chr1:222888200-222900000	Weak transcription	Fetal Brain Male	brain
29	chr1:222888200-222909200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:222888200-222909600	Weak transcription	Spleen	Spleen
31	chr1:222888200-222910200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:222888200-222910400	Strong transcription	Fetal Thymus	thymus
33	chr1:222888400-222893600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr1:222888400-222905200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:222888400-222905600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:222888400-222907800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:222888400-222908200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:222888400-222908600	Strong transcription	HSMM	muscle
39	chr1:222888400-222908600	Strong transcription	NHDF-Ad	bronchial
40	chr1:222888400-222909600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:222888400-222909600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:222888400-222910000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:222888400-222910000	Strong transcription	Fetal Intestine Large	intestine
44	chr1:222888400-222910200	Strong transcription	Placenta	Placenta
45	chr1:222888400-222910800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:222888600-222895200	Weak transcription	Small Intestine	intestine
47	chr1:222888600-222897600	Weak transcription	Thymus	Thymus
48	chr1:222888600-222908400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:222888600-222909800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:222888600-222910400	Strong transcription	Rectal Mucosa Donor 29	rectum

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