Variant report

Variant	rs17034493
Chromosome Location	chr1:10134226-10134227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10002299..10003886-chr1:10132924..10134636,2	K562	blood:
2	chr1:10123267..10128743-chr1:10130766..10138737,8	K562	blood:
3	chr1:10127243..10129600-chr1:10132450..10134898,2	K562	blood:
4	chr1:10133208..10136179-chr1:10139404..10141343,2	K562	blood:

Variant related genes	Relation type
ENSG00000173614	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000228150	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1046277	0.82[JPT][hapmap]
rs11121524	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12074936	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17034501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17034569	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs17034615	0.82[JPT][hapmap]
rs4388708	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4846195	0.82[JPT][hapmap]
rs61760196	0.93[ASN][1000 genomes]
rs72861408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72861422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861457	0.89[ASN][1000 genomes]
rs72861493	0.93[ASN][1000 genomes]
rs9783053	0.82[CHB][hapmap];1.00[JPT][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	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	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
9	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
10	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
12	chr1:10120000-10162600	Weak transcription	Gastric	stomach
13	chr1:10120400-10134400	Weak transcription	Dnd41	blood
14	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
15	chr1:10121800-10141400	Weak transcription	Hela-S3	cervix
16	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:10124600-10140600	Weak transcription	Fetal Brain Female	brain
18	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
20	chr1:10126000-10154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:10126000-10161000	Weak transcription	A549	lung
22	chr1:10126400-10134400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:10126400-10162800	Weak transcription	Brain Germinal Matrix	brain
24	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
25	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:10126800-10134800	Weak transcription	Small Intestine	intestine
27	chr1:10127000-10134600	Weak transcription	Right Ventricle	heart
28	chr1:10127400-10135000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:10127600-10134400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:10127800-10135600	Weak transcription	Fetal Heart	heart
31	chr1:10127800-10140600	Weak transcription	Fetal Lung	lung
32	chr1:10128000-10144800	Weak transcription	Psoas Muscle	Psoas
33	chr1:10129000-10139200	Weak transcription	Placenta	Placenta
34	chr1:10129000-10145200	Weak transcription	Right Atrium	heart
35	chr1:10131400-10137800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:10131600-10134400	Enhancers	NHEK	skin
37	chr1:10131600-10135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:10131600-10135800	Strong transcription	Liver	Liver
39	chr1:10132000-10135600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:10132000-10135800	Strong transcription	Primary T cells from cord blood	blood
41	chr1:10132200-10145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:10132200-10156000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:10132400-10134400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:10132400-10140600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:10132400-10155200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:10132400-10155400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:10132400-10163000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:10132600-10162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:10132600-10165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:10133000-10134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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