Variant report

Variant	rs17589134
Chromosome Location	chr4:151392519-151392520
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151390461..151392917-chr4:151394075..151396884,3	K562	blood:
2	chr4:151386658..151389486-chr4:151390352..151392886,2	MCF-7	breast:
3	chr4:151371820..151374055-chr4:151390607..151393059,2	K562	blood:
4	chr4:151391444..151393840-chr4:151393855..151396735,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12498862	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12499470	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12500337	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502486	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12503093	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506612	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507785	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12508149	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647325	0.84[ASN][1000 genomes]
rs17504359	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17504442	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17589028	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589349	0.84[ASN][1000 genomes]
rs1979920	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2360071	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41386148	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56714695	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535735	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6812262	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817796	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827645	0.84[ASN][1000 genomes]
rs6831707	0.84[ASN][1000 genomes]
rs6833359	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6836012	0.84[ASN][1000 genomes]
rs6839345	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6849869	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6854612	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7677055	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681051	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7699001	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8180280	0.90[CHB][hapmap]
rs952097	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs998069	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
4	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:151376200-151409600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:151376800-151403800	Weak transcription	Ovary	ovary
10	chr4:151377000-151403400	Weak transcription	Aorta	Aorta
11	chr4:151377000-151412400	Weak transcription	Liver	Liver
12	chr4:151377600-151400000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:151378000-151398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:151380000-151409600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:151381200-151408200	Weak transcription	Left Ventricle	heart
16	chr4:151381400-151411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:151382800-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:151384600-151404800	Weak transcription	HepG2	liver
20	chr4:151384600-151409800	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:151385800-151403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:151385800-151404600	Weak transcription	Brain Anterior Caudate	brain
24	chr4:151386000-151393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:151386000-151398000	Weak transcription	NHEK	skin
26	chr4:151386000-151403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:151386000-151408800	Weak transcription	Pancreas	Pancrea
28	chr4:151387200-151392600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:151387600-151408200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:151387600-151409800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:151387600-151412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:151387600-151419000	Weak transcription	K562	blood
33	chr4:151387800-151394200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:151387800-151394600	Weak transcription	Primary T cells from cord blood	blood
35	chr4:151387800-151398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:151387800-151423000	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:151388200-151406200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:151388600-151406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:151390600-151411400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:151390800-151395200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:151391000-151393000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:151391400-151392600	Strong transcription	Primary B cells from cord blood	blood
43	chr4:151391400-151393000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr4:151391600-151394800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:151391800-151411400	Weak transcription	Fetal Intestine Large	intestine
46	chr4:151392000-151397400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:151392200-151413000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:151392200-151414800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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