Variant report

Variant	rs17702203
Chromosome Location	chr4:87961503-87961504
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87960294..87962501-chr4:87964781..87966501,2	K562	blood:
2	chr4:87953334..87957046-chr4:87958598..87961763,4	K562	blood:
3	chr4:87952663..87956832-chr4:87958320..87961763,4	K562	blood:
4	chr4:87960365..87962821-chr4:87965345..87969600,5	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10015508	0.92[CEU][hapmap]
rs10489044	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10516787	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13109968	1.00[AFR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes]
rs13120839	0.92[CEU][hapmap]
rs13136338	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136465	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes]
rs13141697	0.85[CEU][hapmap]
rs17012114	0.84[CEU][hapmap]
rs17012130	0.85[CEU][hapmap]
rs33983129	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34227282	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes]
rs34745873	1.00[AFR][1000 genomes]
rs35182728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41525049	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs431836	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62306505	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62306510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6811350	0.92[CEU][hapmap]
rs6853425	0.83[AFR][1000 genomes]
rs727143	0.92[CEU][hapmap]
rs767314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
2	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
3	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
6	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:87953800-87961600	Enhancers	Brain Substantia Nigra	brain
8	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:87954600-87961600	Enhancers	Brain Angular Gyrus	brain
10	chr4:87954600-87962200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
13	chr4:87955600-87962200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:87955600-87962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:87955600-87962400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:87955600-87964800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:87956800-87961600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:87956800-87963000	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:87957000-87962800	Enhancers	Brain Anterior Caudate	brain
20	chr4:87957600-87961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:87958400-87962400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:87958400-87963400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:87958600-87962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:87958600-87965800	Weak transcription	Fetal Intestine Small	intestine
25	chr4:87958800-87964200	Weak transcription	Spleen	Spleen
26	chr4:87958800-87968000	Weak transcription	Esophagus	oesophagus
27	chr4:87959000-87962400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:87959200-87961600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:87959200-87961600	Enhancers	HMEC	breast
30	chr4:87959200-87967000	Weak transcription	Dnd41	blood
31	chr4:87959400-87966400	Enhancers	Left Ventricle	heart
32	chr4:87959600-87961600	Enhancers	Right Ventricle	heart
33	chr4:87959600-87967200	Enhancers	Psoas Muscle	Psoas
34	chr4:87959800-87966000	Weak transcription	Aorta	Aorta
35	chr4:87960000-87961800	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:87960000-87962400	Enhancers	Lung	lung
37	chr4:87960000-87964800	Enhancers	Right Atrium	heart
38	chr4:87960200-87961600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:87960200-87962200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:87960200-87963400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:87960400-87961800	Strong transcription	Thymus	Thymus
42	chr4:87960400-87962400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:87960400-87962400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:87960400-87962400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:87960400-87963400	Weak transcription	Colonic Mucosa	Colon
46	chr4:87960400-87963600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:87960400-87964000	Enhancers	GM12878-XiMat	blood
48	chr4:87960400-87964200	Weak transcription	Gastric	stomach
49	chr4:87960400-87965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:87960400-87965800	Weak transcription	Placenta Amnion	Placenta Amnion

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