Variant report

Variant	rs17473936
Chromosome Location	chr1:222908921-222908922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222908051-222911718	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222883871..222887427-chr1:222906155..222909038,3	MCF-7	breast:

Variant related genes	Relation type
FAM177B	TF binding region
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17475774	1.00[MKK][hapmap]
rs17534774	0.91[MKK][hapmap]
rs17536209	1.00[MKK][hapmap]
rs17536299	1.00[MKK][hapmap]
rs17536522	1.00[MKK][hapmap]
rs28362013	0.84[MKK][hapmap]
rs34229647	1.00[MKK][hapmap]
rs35506390	1.00[MKK][hapmap]

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	chr1:222887200-222909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:222887400-222909600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:222887400-222912000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222887600-222912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:222888000-222909200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:222888200-222909200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:222888200-222909600	Weak transcription	Spleen	Spleen
8	chr1:222888200-222910200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:222888200-222910400	Strong transcription	Fetal Thymus	thymus
10	chr1:222888400-222909600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:222888400-222909600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:222888400-222910000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:222888400-222910000	Strong transcription	Fetal Intestine Large	intestine
14	chr1:222888400-222910200	Strong transcription	Placenta	Placenta
15	chr1:222888400-222910800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:222888600-222909800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:222888600-222910400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:222888600-222910800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:222888600-222911200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:222888600-222911400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:222889000-222910000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:222889000-222910200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:222889000-222911200	Strong transcription	Liver	Liver
24	chr1:222889000-222911400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:222889200-222910000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:222889200-222910600	Strong transcription	Adipose Nuclei	Adipose
27	chr1:222889600-222909400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:222889800-222909200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:222889800-222909600	Strong transcription	HUVEC	blood vessel
30	chr1:222889800-222910200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:222890000-222910000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:222891600-222909800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:222891800-222910200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:222892000-222909000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:222892000-222910200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:222892000-222911000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:222892400-222909000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:222894000-222909000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:222895200-222911600	Strong transcription	Primary T cells from cord blood	blood
40	chr1:222896600-222909200	Strong transcription	Fetal Brain Female	brain
41	chr1:222897400-222909200	Strong transcription	Osteobl	bone
42	chr1:222897400-222910600	Weak transcription	Pancreas	Pancrea
43	chr1:222899000-222909200	Strong transcription	Fetal Lung	lung
44	chr1:222899000-222909600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:222900000-222909200	Strong transcription	Fetal Brain Male	brain
46	chr1:222900200-222909600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:222900200-222910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:222901200-222911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:222901600-222911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:222903200-222909200	Strong transcription	Brain Hippocampus Middle	brain

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