Variant report

Variant	rs17558869
Chromosome Location	chr1:225632485-225632486
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225624234..225625837-chr1:225632480..225634509,2	K562	blood:
2	chr1:225632160..225634552-chr1:225642936..225645932,3	K562	blood:
3	chr1:225614179..225618111-chr1:225627420..225635153,13	K562	blood:
4	chr1:225609559..225620018-chr1:225630046..225635440,23	K562	blood:
5	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
6	chr1:225611259..225613937-chr1:225629471..225632737,4	K562	blood:
7	chr1:225625909..225628498-chr1:225632163..225635027,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12083979	1.00[JPT][hapmap]
rs12085130	1.00[JPT][hapmap]
rs12087159	1.00[JPT][hapmap]
rs12089582	1.00[JPT][hapmap]
rs1340868	1.00[CHD][hapmap]
rs1537877	1.00[JPT][hapmap]
rs16844841	1.00[JPT][hapmap]
rs16844846	1.00[JPT][hapmap]
rs16845078	1.00[CHD][hapmap]
rs17500089	0.90[ASN][1000 genomes]
rs17500814	1.00[CHD][hapmap]
rs17501138	1.00[CHD][hapmap]
rs17501956	1.00[CHD][hapmap]
rs17502068	1.00[CHD][hapmap]
rs17559267	0.90[ASN][1000 genomes]
rs17559587	1.00[CHD][hapmap]
rs17569049	1.00[CHD][hapmap]
rs1876086	1.00[CHD][hapmap]
rs2230420	1.00[YRI][hapmap]
rs6679318	1.00[JPT][hapmap]
rs6679804	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544179	0.95[AMR][1000 genomes]
rs880434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
2	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
3	chr1:225628800-225633000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:225629200-225632600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:225629200-225633000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:225629200-225636400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:225629400-225635600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:225629400-225635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:225629600-225634000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:225629600-225634200	Enhancers	Spleen	Spleen
11	chr1:225629800-225634800	Enhancers	HUVEC	blood vessel
12	chr1:225630000-225632600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:225630200-225633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:225630200-225633400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:225630200-225634600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:225630200-225635200	Enhancers	Liver	Liver
17	chr1:225630200-225636400	Enhancers	Fetal Intestine Small	intestine
18	chr1:225630800-225633800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:225630800-225636600	Enhancers	Fetal Muscle Leg	muscle
20	chr1:225631000-225632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:225631000-225633200	Weak transcription	Lung	lung
22	chr1:225631000-225634400	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:225631200-225632600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:225631200-225632600	Weak transcription	A549	lung
25	chr1:225631200-225633200	Weak transcription	Small Intestine	intestine
26	chr1:225631200-225633400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:225631200-225633400	Weak transcription	Gastric	stomach
28	chr1:225631200-225635000	Weak transcription	Psoas Muscle	Psoas
29	chr1:225631400-225632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225631400-225632600	Weak transcription	Fetal Kidney	kidney
31	chr1:225631400-225632600	Weak transcription	Pancreas	Pancrea
32	chr1:225631400-225633400	Weak transcription	Fetal Heart	heart
33	chr1:225631400-225633400	Enhancers	HepG2	liver
34	chr1:225631400-225634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:225631600-225633800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:225632200-225633200	Weak transcription	Left Ventricle	heart
37	chr1:225632200-225633200	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:225632200-225633200	Weak transcription	Right Ventricle	heart
39	chr1:225632200-225634000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:225632200-225634000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:225632200-225635800	Enhancers	Fetal Stomach	stomach
42	chr1:225632200-225637800	Enhancers	Stomach Mucosa	stomach
43	chr1:225632400-225632600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:225632400-225632600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:225632400-225632600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:225632400-225632600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:225632400-225632600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:225632400-225632600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:225632400-225632600	Enhancers	Right Atrium	heart
50	chr1:225632400-225632600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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