Variant report

Variant	rs17034545
Chromosome Location	chr1:10224693-10224694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10224653..10226534-chr1:10269506..10271453,2	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12045943	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12070814	0.81[JPT][hapmap]
rs12076922	0.81[JPT][hapmap]
rs12092513	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17034558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034560	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2273298	0.84[CHD][hapmap]
rs2273299	0.84[CHD][hapmap]
rs4415569	1.00[EUR][1000 genomes]
rs60085278	1.00[EUR][1000 genomes]
rs61782922	1.00[EUR][1000 genomes]
rs61782923	1.00[EUR][1000 genomes]
rs61782925	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61782926	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61782927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61782933	1.00[ASN][1000 genomes]
rs61782936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782937	1.00[ASN][1000 genomes]
rs61782938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6659436	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6667049	0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs6673887	0.80[JPT][hapmap]
rs6685910	0.81[JPT][hapmap]
rs6687550	1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6688779	1.00[EUR][1000 genomes]
rs6691957	1.00[EUR][1000 genomes]
rs6692491	0.80[ASN][1000 genomes]
rs6700518	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
9	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
11	chr1:10197600-10225000	Weak transcription	NHEK	skin
12	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
13	chr1:10201600-10231200	Weak transcription	HMEC	breast
14	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
15	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
19	chr1:10212000-10224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:10212000-10224800	Weak transcription	Fetal Kidney	kidney
21	chr1:10212000-10225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:10213200-10231000	Weak transcription	A549	lung
23	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:10215200-10229200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:10215400-10225400	Weak transcription	NHLF	lung
28	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:10215600-10225000	Weak transcription	HSMM	muscle
30	chr1:10216000-10225400	Weak transcription	Right Ventricle	heart
31	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
32	chr1:10217800-10226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10217800-10230200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:10218000-10226600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:10218000-10226800	Strong transcription	Primary T cells from cord blood	blood
36	chr1:10218000-10226800	Strong transcription	Fetal Thymus	thymus
37	chr1:10218000-10226800	Strong transcription	Lung	lung
38	chr1:10218000-10234600	Strong transcription	Liver	Liver
39	chr1:10218200-10226600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:10218200-10229600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:10218800-10224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:10218800-10225200	Weak transcription	Fetal Lung	lung
46	chr1:10219200-10226800	Strong transcription	Primary B cells from cord blood	blood
47	chr1:10219600-10224800	Weak transcription	Colonic Mucosa	Colon
48	chr1:10219800-10226400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:10219800-10226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:10219800-10229600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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