Variant report

Variant	rs12601424
Chromosome Location	chr17:17022274-17022275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17010273..17011801-chr17:17020537..17022736,2	K562	blood:
2	chr17:17022152..17024534-chr17:17033092..17034855,2	MCF-7	breast:
3	chr17:17017540..17019089-chr17:17022012..17023742,2	MCF-7	breast:
4	chr17:17020278..17022879-chr17:17024939..17027865,2	K562	blood:
5	chr17:17008907..17011801-chr17:17020811..17022736,2	K562	blood:
6	chr17:17016476..17019464-chr17:17021686..17024565,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12601193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602675	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs16961340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961396	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744124	0.85[CEU][hapmap]
rs3744126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744142	0.86[CHB][hapmap]
rs3803762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3826304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4078534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41319048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4316813	0.92[JPT][hapmap]
rs4328504	0.81[ASN][1000 genomes]
rs6502557	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs6502565	1.00[CEU][hapmap]
rs7222600	1.00[CEU][hapmap]
rs8064771	0.92[JPT][hapmap]
rs8069241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072214	0.87[EUR][1000 genomes]
rs8076621	0.87[EUR][1000 genomes]
rs9908728	0.84[ASN][1000 genomes]
rs9909107	0.84[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	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
4	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
10	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:17015800-17023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:17015800-17025200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:17015800-17030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:17016400-17022400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:17016400-17025000	Enhancers	Brain Substantia Nigra	brain
18	chr17:17016800-17025400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr17:17017600-17025000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:17017600-17025000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr17:17017600-17025000	Enhancers	Brain Hippocampus Middle	brain
22	chr17:17017600-17025200	Enhancers	Fetal Heart	heart
23	chr17:17017800-17025000	Enhancers	Left Ventricle	heart
24	chr17:17017800-17025000	Enhancers	Ovary	ovary
25	chr17:17017800-17025000	Enhancers	Right Atrium	heart
26	chr17:17017800-17025000	Enhancers	Right Ventricle	heart
27	chr17:17017800-17025000	Enhancers	Spleen	Spleen
28	chr17:17018000-17022800	Weak transcription	Fetal Kidney	kidney
29	chr17:17018000-17025000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:17018000-17025000	Genic enhancers	Fetal Intestine Small	intestine
31	chr17:17018000-17025000	Enhancers	Pancreas	Pancrea
32	chr17:17018400-17024400	Genic enhancers	Fetal Stomach	stomach
33	chr17:17018800-17023400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:17018800-17025000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:17018800-17027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:17019200-17028800	Weak transcription	HSMMtube	muscle
37	chr17:17019400-17025000	Enhancers	Fetal Thymus	thymus
38	chr17:17019600-17025000	Enhancers	Fetal Lung	lung
39	chr17:17019800-17023000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:17019800-17031200	Weak transcription	Hela-S3	cervix
41	chr17:17020200-17022800	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr17:17020200-17023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:17020200-17025400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr17:17020400-17023000	Enhancers	Primary T cells from cord blood	blood
45	chr17:17020400-17024400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:17020400-17024800	Enhancers	Liver	Liver
47	chr17:17020600-17022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:17020600-17022400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr17:17020600-17022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:17020600-17023600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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