Variant report

Variant	rs17598867
Chromosome Location	chr5:126140069-126140070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126111922..126114546-chr5:126139894..126142503,2	K562	blood:
2	chr5:126139495..126141394-chr5:126144830..126147381,2	K562	blood:
3	chr5:126111922..126113626-chr5:126139894..126142741,2	K562	blood:

Variant related genes	Relation type
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17532839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533927	1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap]
rs17598428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763156	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805739	0.90[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55656009	0.83[EUR][1000 genomes]
rs62391704	0.83[EUR][1000 genomes]
rs62391730	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391731	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391735	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391738	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391742	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62392861	0.83[AMR][1000 genomes]
rs62392862	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7714589	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7732759	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
7	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
9	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
13	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
14	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:126131200-126140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:126132200-126161200	Weak transcription	Gastric	stomach
32	chr5:126132400-126140400	Weak transcription	HepG2	liver
33	chr5:126132400-126141800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:126133800-126141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
36	chr5:126135400-126140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:126136000-126145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:126136000-126175200	Strong transcription	Dnd41	blood
39	chr5:126136200-126142000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:126136200-126142000	Weak transcription	Hela-S3	cervix
41	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:126137400-126140400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:126137600-126140200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:126137600-126140400	Weak transcription	Primary T cells from cord blood	blood
45	chr5:126137600-126141200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:126137600-126146800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:126137600-126154600	Weak transcription	Fetal Kidney	kidney
48	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:126137800-126140200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:126137800-126140200	Weak transcription	A549	lung

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