Variant report

Variant	rs2017607
Chromosome Location	chr4:76600889-76600890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76600444..76602988-chr4:76649090..76651624,2	MCF-7	breast:
2	chr4:76596286..76601002-chr4:76645864..76652581,23	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1801838	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2037012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41398350	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56151783	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56308338	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56693719	1.00[AMR][1000 genomes]
rs56728961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58140957	1.00[AMR][1000 genomes]
rs58822138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59405026	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59448225	0.94[AMR][1000 genomes]
rs59684133	0.91[AFR][1000 genomes]
rs60332325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66606482	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67662392	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68155345	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6818849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6828587	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6841290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6843244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6857983	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72649405	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72649420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:76599200-76602000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:76599200-76620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
6	chr4:76599400-76601400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:76599400-76603000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:76599400-76613000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:76599400-76617400	Weak transcription	Fetal Stomach	stomach
10	chr4:76599400-76619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
12	chr4:76599600-76605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:76599600-76607800	Weak transcription	Fetal Thymus	thymus
14	chr4:76599600-76608200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:76599600-76608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:76599600-76610800	Weak transcription	Brain Anterior Caudate	brain
17	chr4:76599600-76611200	Weak transcription	HSMMtube	muscle
18	chr4:76599600-76611400	Weak transcription	HSMM	muscle
19	chr4:76599600-76612200	Weak transcription	Brain Germinal Matrix	brain
20	chr4:76599600-76615600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
22	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
24	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
26	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
28	chr4:76599800-76604400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:76599800-76604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:76599800-76605000	Weak transcription	Primary T cells from cord blood	blood
31	chr4:76599800-76605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:76599800-76605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:76599800-76608200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:76599800-76610800	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:76599800-76611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:76599800-76612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:76599800-76612600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:76599800-76612600	Weak transcription	A549	lung
39	chr4:76599800-76613000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:76599800-76613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:76599800-76619800	Weak transcription	Liver	Liver
42	chr4:76599800-76621200	Weak transcription	HepG2	liver
43	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:76600400-76603000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:76600400-76603400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:76600600-76603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:76600600-76603200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:76600600-76603600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:76600600-76604600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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