Variant report

Variant	rs10079850
Chromosome Location	chr5:36228687-36228688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36220234..36224903-chr5:36227628..36232004,4	K562	blood:
2	chr5:36220506..36223464-chr5:36227618..36229963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245711	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10051604	1.00[EUR][1000 genomes]
rs10079844	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][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]
rs10473001	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10473002	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10512643	0.81[YRI][hapmap];0.88[EUR][1000 genomes]
rs10737962	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10805609	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10805610	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12697356	0.85[GIH][hapmap]
rs1364017	0.85[GIH][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1500224	0.85[GIH][hapmap]
rs152365	0.86[AFR][1000 genomes]
rs152366	0.83[EUR][1000 genomes]
rs1816101	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2303163	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2362978	1.00[EUR][1000 genomes]
rs27733	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs33663	0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs34888491	0.85[EUR][1000 genomes]
rs3761974	1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs3849786	0.81[YRI][hapmap];0.88[EUR][1000 genomes]
rs3860801	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3906394	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41445147	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4869626	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6451262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451263	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6451265	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6451269	1.00[EUR][1000 genomes]
rs6863707	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6866745	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6870255	0.84[AMR][1000 genomes]
rs6873176	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6891120	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6893107	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6895423	1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7705396	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7715317	1.00[EUR][1000 genomes]
rs7720779	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs991032	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
2	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
3	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
5	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:36200000-36229600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
8	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:36213200-36230200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:36215200-36236600	Weak transcription	Small Intestine	intestine
13	chr5:36215800-36237800	Weak transcription	HMEC	breast
14	chr5:36219600-36230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:36221000-36230200	Weak transcription	K562	blood
16	chr5:36221200-36230000	Weak transcription	HSMMtube	muscle
17	chr5:36221200-36230400	Weak transcription	Lung	lung
18	chr5:36221200-36238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:36221400-36229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:36221600-36230000	Weak transcription	Pancreas	Pancrea
21	chr5:36221600-36230200	Weak transcription	Gastric	stomach
22	chr5:36221600-36232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:36221600-36235600	Weak transcription	Fetal Kidney	kidney
24	chr5:36221600-36236200	Weak transcription	Fetal Intestine Small	intestine
25	chr5:36221600-36238600	Weak transcription	Fetal Stomach	stomach
26	chr5:36221600-36239800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:36223000-36230600	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:36223200-36229400	Weak transcription	Fetal Heart	heart
29	chr5:36224200-36229800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:36225200-36230400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:36225200-36230400	Weak transcription	Brain Substantia Nigra	brain
32	chr5:36225200-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:36225400-36230400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:36225400-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:36225400-36237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:36225600-36229400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:36225600-36229600	Weak transcription	Ovary	ovary
38	chr5:36225600-36230000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:36225600-36230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:36225600-36239800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:36225800-36230000	Weak transcription	Aorta	Aorta
42	chr5:36225800-36230200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:36225800-36230200	Weak transcription	Left Ventricle	heart
44	chr5:36225800-36237800	Weak transcription	Fetal Lung	lung
45	chr5:36226000-36229000	Weak transcription	Fetal Thymus	thymus
46	chr5:36226000-36230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:36226000-36230200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:36226000-36233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:36226000-36236600	Weak transcription	Fetal Intestine Large	intestine
50	chr5:36226000-36237000	Weak transcription	Brain Inferior Temporal Lobe	brain

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