Variant report

Variant	rs17060434
Chromosome Location	chr4:175184671-175184672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175182462..175186203-chr4:175202601..175205793,3	MCF-7	breast:
2	chr4:175184412..175187975-chr4:175189059..175193975,5	K562	blood:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1046702	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1050092	1.00[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17060418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17060436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060455	1.00[CEU][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17060459	1.00[CEU][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17358230	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs62335800	0.88[AFR][1000 genomes]
rs72993311	0.84[ASN][1000 genomes]
rs72993314	0.84[ASN][1000 genomes]
rs72993320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7665095	0.88[YRI][hapmap]
rs7685970	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7699942	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
2	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
5	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
6	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:175154400-175202400	Weak transcription	Gastric	stomach
8	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
9	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
10	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:175159800-175199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:175161000-175192400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:175171800-175195200	Weak transcription	Pancreas	Pancrea
15	chr4:175173800-175185000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:175174000-175188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:175174800-175186600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:175174800-175199800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
20	chr4:175175000-175196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:175175000-175198600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:175177200-175188000	Weak transcription	HMEC	breast
23	chr4:175177400-175187200	Weak transcription	Brain Germinal Matrix	brain
24	chr4:175177400-175189000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:175177400-175190400	Weak transcription	Fetal Kidney	kidney
26	chr4:175177400-175197800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:175177600-175192000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:175178000-175189200	Weak transcription	Fetal Heart	heart
29	chr4:175178000-175198600	Weak transcription	K562	blood
30	chr4:175178000-175203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:175178200-175185400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:175178200-175191400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:175178200-175193800	Weak transcription	HSMMtube	muscle
34	chr4:175178800-175187600	Weak transcription	Primary B cells from cord blood	blood
35	chr4:175179200-175185800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:175179200-175192200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:175179400-175202400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:175181000-175185200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:175181000-175187000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:175181000-175201600	Weak transcription	Fetal Thymus	thymus
42	chr4:175181200-175189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:175181400-175187800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:175181600-175189200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:175181600-175196200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:175181600-175203400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:175181600-175203600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:175181800-175187600	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:175182000-175187600	Weak transcription	NHDF-Ad	bronchial
50	chr4:175182200-175186600	Weak transcription	Stomach Smooth Muscle	stomach

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