Variant report

Variant	rs17012334
Chromosome Location	chr4:87980748-87980749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87979844..87982158-chr4:87983072..87985121,2	K562	blood:
2	chr4:87927620..87929717-chr4:87979939..87981868,2	MCF-7	breast:
3	chr4:87977551..87981344-chr4:87982047..87984756,4	K562	blood:
4	chr4:87973947..87977443-chr4:87977698..87982276,5	K562	blood:
5	chr4:87842585..87845353-chr4:87979775..87981630,2	K562	blood:
6	chr4:87926976..87930331-chr4:87978377..87981328,6	K562	blood:
7	chr4:87980531..87986351-chr4:87988282..87991075,4	K562	blood:
8	chr4:87979249..87981016-chr4:87989871..87992202,2	MCF-7	breast:
9	chr4:87925846..87930633-chr4:87974014..87981325,14	K562	blood:
10	chr4:87980531..87984297-chr4:87985969..87990791,4	K562	blood:
11	chr4:87853906..87856059-chr4:87978530..87982549,4	K562	blood:
12	chr4:87938324..87940317-chr4:87979217..87981960,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10023056	0.90[CEU][hapmap]
rs10029915	0.80[EUR][1000 genomes]
rs10032710	0.90[CEU][hapmap]
rs10516788	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs151451	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs17012234	0.90[CEU][hapmap]
rs17012512	0.81[EUR][1000 genomes]
rs17604480	0.82[EUR][1000 genomes]
rs17701999	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs17752307	0.86[CEU][hapmap]
rs1842685	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2061498	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs236676	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs236681	0.81[CHB][hapmap]
rs3733377	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs3736668	0.85[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs3755980	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs3755983	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs3755985	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs3775209	0.82[EUR][1000 genomes]
rs3775211	0.86[EUR][1000 genomes]
rs3775226	0.90[EUR][1000 genomes]
rs3775228	0.81[CHB][hapmap]
rs4693802	0.82[CHB][hapmap]
rs55982755	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56201818	0.80[EUR][1000 genomes]
rs56395939	0.80[EUR][1000 genomes]
rs66477840	0.81[EUR][1000 genomes]
rs6819155	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs6840258	0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs6854749	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs72667765	0.80[EUR][1000 genomes]
rs7665282	0.86[CEU][hapmap]
rs767315	0.80[EUR][1000 genomes]
rs7682652	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
3	chr4:87968800-87982000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:87968800-87982200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:87968800-87983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:87970200-87989800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:87970400-87982200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:87972200-87982200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:87972400-87982200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:87974800-87981200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:87975000-87987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:87975400-87981200	Enhancers	Fetal Intestine Large	intestine
15	chr4:87976200-87989800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:87976800-87981200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:87976800-87982200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:87977000-87989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:87977800-87981600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr4:87977800-87982400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr4:87977800-87982400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:87978000-87980800	Enhancers	Ovary	ovary
23	chr4:87978000-87981000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:87978000-87981000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:87978000-87981000	Enhancers	Right Ventricle	heart
26	chr4:87978000-87981200	Genic enhancers	Placenta	Placenta
27	chr4:87978000-87981200	Enhancers	Small Intestine	intestine
28	chr4:87978200-87980800	Enhancers	Fetal Heart	heart
29	chr4:87978200-87983000	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:87978200-87983600	Enhancers	Psoas Muscle	Psoas
31	chr4:87978400-87981800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr4:87978600-87981200	Genic enhancers	K562	blood
33	chr4:87978600-87982400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:87978800-87981200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:87979000-87980800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:87979000-87981000	Enhancers	Adipose Nuclei	Adipose
37	chr4:87979000-87981200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:87979000-87981400	Enhancers	Brain Hippocampus Middle	brain
39	chr4:87979000-87983400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:87979200-87981000	Enhancers	Brain Cingulate Gyrus	brain
41	chr4:87979200-87981000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:87979200-87981200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:87979200-87981200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:87979200-87981200	Enhancers	Right Atrium	heart
45	chr4:87979200-87981400	Genic enhancers	Fetal Intestine Small	intestine
46	chr4:87979200-87981600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:87979200-87982400	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:87979200-87982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:87979400-87980800	Enhancers	Left Ventricle	heart
50	chr4:87979400-87981200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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