Variant report

Variant	rs17003461
Chromosome Location	chr4:79752812-79752813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79743779..79746797-chr4:79749010..79752930,4	K562	blood:
2	chr4:79674995..79676989-chr4:79751851..79754832,2	K562	blood:
3	chr4:79696453..79698645-chr4:79751602..79753557,2	MCF-7	breast:
4	chr4:79752709..79756121-chr4:79759039..79764017,4	K562	blood:
5	chr4:79743529..79746797-chr4:79749528..79753927,4	K562	blood:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10011360	1.00[AMR][1000 genomes]
rs10022801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028888	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031149	1.00[AMR][1000 genomes]
rs10032333	1.00[AMR][1000 genomes]
rs10033281	1.00[AMR][1000 genomes]
rs10440396	1.00[AMR][1000 genomes]
rs10440397	1.00[AMR][1000 genomes]
rs10518203	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518204	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003449	1.00[GIH][hapmap]
rs17003474	1.00[GIH][hapmap]
rs17003486	1.00[MEX][hapmap]
rs1816184	1.00[GIH][hapmap]
rs28366415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28377257	1.00[AMR][1000 genomes]
rs28423984	1.00[AMR][1000 genomes]
rs28440150	1.00[AMR][1000 genomes]
rs28451964	1.00[AMR][1000 genomes]
rs28452521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28479356	1.00[AMR][1000 genomes]
rs28551149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28580580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28674732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28676399	1.00[AMR][1000 genomes]
rs28681258	1.00[AMR][1000 genomes]
rs28689013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28705943	1.00[AMR][1000 genomes]
rs28708661	1.00[AMR][1000 genomes]
rs28708924	1.00[AMR][1000 genomes]
rs28709346	1.00[AMR][1000 genomes]
rs28722195	1.00[AMR][1000 genomes]
rs28781350	1.00[AMR][1000 genomes]
rs28818508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28896313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7658187	1.00[GIH][hapmap]
rs7661139	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9991385	1.00[AMR][1000 genomes]
rs9991672	1.00[AMR][1000 genomes]
rs9994104	1.00[AMR][1000 genomes]
rs9995485	1.00[AMR][1000 genomes]
rs9998371	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1011365	chr4:79714695-79779723	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007685	chr4:79732468-79788768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79732400-79759200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:79744600-79793800	Weak transcription	Psoas Muscle	Psoas
4	chr4:79745400-79760400	Strong transcription	K562	blood
5	chr4:79745800-79786400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:79746400-79753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:79746400-79753800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr4:79746600-79753800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:79746600-79756000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:79746600-79761000	Strong transcription	Primary B cells from cord blood	blood
11	chr4:79746800-79753800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr4:79746800-79756400	Strong transcription	NHDF-Ad	bronchial
13	chr4:79746800-79760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:79746800-79761000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:79746800-79783400	Weak transcription	A549	lung
16	chr4:79747000-79759000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:79747200-79815600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:79747600-79753200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:79747600-79753600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79747600-79756000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:79747800-79753600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:79748800-79755000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
24	chr4:79749200-79757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:79749200-79773800	Weak transcription	Esophagus	oesophagus
26	chr4:79749200-79793600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:79749400-79759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:79749400-79780000	Weak transcription	HUVEC	blood vessel
29	chr4:79749400-79782000	Weak transcription	HepG2	liver
30	chr4:79749400-79792400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:79749400-79793800	Weak transcription	Gastric	stomach
32	chr4:79749600-79753000	Weak transcription	Right Ventricle	heart
33	chr4:79749600-79759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:79749600-79762200	Weak transcription	Pancreas	Pancrea
35	chr4:79749600-79766000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:79749600-79781000	Weak transcription	Ovary	ovary
37	chr4:79749600-79784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:79749600-79793000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:79749600-79793600	Weak transcription	Brain Germinal Matrix	brain
40	chr4:79749600-79793800	Weak transcription	Fetal Brain Female	brain
41	chr4:79749800-79758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:79749800-79758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:79749800-79760000	Weak transcription	Spleen	Spleen
44	chr4:79749800-79761800	Weak transcription	Fetal Brain Male	brain
45	chr4:79749800-79762200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:79749800-79766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:79749800-79772200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:79749800-79773600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:79749800-79781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:79749800-79786800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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