Variant report

Variant	rs17035217
Chromosome Location	chr1:10600284-10600285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10570481..10573299-chr1:10599222..10600978,2	K562	blood:
2	chr1:10594251..10596401-chr1:10598205..10601279,3	K562	blood:
3	chr1:10591577..10594181-chr1:10600029..10602001,2	K562	blood:
4	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:

Variant related genes	Relation type
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17035111	1.00[AMR][1000 genomes]
rs17035116	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41274484	1.00[AMR][1000 genomes]
rs56696283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57249989	1.00[AMR][1000 genomes]
rs57269205	1.00[AMR][1000 genomes]
rs61367470	1.00[AMR][1000 genomes]
rs7552283	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
7	chr1:10590200-10602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:10590200-10605200	Weak transcription	NHDF-Ad	bronchial
9	chr1:10590800-10601000	Weak transcription	A549	lung
10	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
11	chr1:10591200-10601000	Weak transcription	Placenta	Placenta
12	chr1:10591200-10601400	Weak transcription	Colonic Mucosa	Colon
13	chr1:10591400-10609000	Weak transcription	Small Intestine	intestine
14	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:10593000-10603800	Weak transcription	Fetal Brain Female	brain
18	chr1:10593400-10601000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:10593400-10603600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:10594600-10604400	Strong transcription	Fetal Intestine Small	intestine
21	chr1:10595000-10600800	Weak transcription	HMEC	breast
22	chr1:10595600-10602400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:10595800-10602000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:10595800-10602400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:10595800-10603000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:10596000-10602200	Strong transcription	Primary T cells from cord blood	blood
27	chr1:10596000-10602600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:10596000-10602600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:10596200-10602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:10596200-10602600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:10596400-10603200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:10596800-10601000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:10596800-10601400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:10596800-10601400	Weak transcription	Gastric	stomach
35	chr1:10596800-10602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:10597000-10600800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:10597200-10604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:10597400-10600800	Weak transcription	Spleen	Spleen
39	chr1:10597400-10601200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:10597400-10601200	Weak transcription	Esophagus	oesophagus
41	chr1:10597400-10601200	Enhancers	Fetal Muscle Leg	muscle
42	chr1:10597400-10601200	Weak transcription	Lung	lung
43	chr1:10597600-10601400	Enhancers	Psoas Muscle	Psoas
44	chr1:10598000-10601200	Enhancers	Osteobl	bone
45	chr1:10598000-10602000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:10598000-10602000	Enhancers	Fetal Heart	heart
47	chr1:10598200-10601600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:10598400-10600800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:10598400-10601000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:10598400-10601400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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