Variant report

Variant	rs1816101
Chromosome Location	chr5:36211037-36211038
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	chr5:36210125..36212341-chr5:36239973..36242599,2	MCF-7	breast:
2	chr5:36210257..36211842-chr5:36269897..36271845,2	K562	blood:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10051604	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10079844	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10079850	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10080095	0.88[ASN][1000 genomes]
rs10214173	0.88[ASN][1000 genomes]
rs10223062	0.88[ASN][1000 genomes]
rs1035480	0.88[ASN][1000 genomes]
rs10473001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10512643	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10737962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805610	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10805611	0.88[ASN][1000 genomes]
rs10805612	0.88[ASN][1000 genomes]
rs11747169	0.88[ASN][1000 genomes]
rs13360059	0.88[ASN][1000 genomes]
rs1345776	0.88[ASN][1000 genomes]
rs1363843	0.88[ASN][1000 genomes]
rs1363844	0.88[ASN][1000 genomes]
rs1364017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1423223	0.88[ASN][1000 genomes]
rs1423226	0.88[ASN][1000 genomes]
rs152365	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs152366	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862543	0.88[ASN][1000 genomes]
rs1862544	0.88[ASN][1000 genomes]
rs2303163	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362978	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2362980	0.88[ASN][1000 genomes]
rs27733	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33663	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34888491	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3761974	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3849786	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3860801	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3906394	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41445147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs430421	0.87[ASN][1000 genomes]
rs4869473	0.88[ASN][1000 genomes]
rs4869474	0.88[ASN][1000 genomes]
rs4869626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869634	0.88[ASN][1000 genomes]
rs4869635	0.87[ASN][1000 genomes]
rs4869636	0.88[ASN][1000 genomes]
rs6451262	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6451263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6451265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6451269	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451270	0.88[ASN][1000 genomes]
rs6863707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6866745	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869599	0.88[ASN][1000 genomes]
rs6870255	0.93[ASN][1000 genomes]
rs6873176	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6874389	0.88[ASN][1000 genomes]
rs6881086	0.88[ASN][1000 genomes]
rs6886098	0.88[ASN][1000 genomes]
rs6891120	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6892199	0.88[ASN][1000 genomes]
rs6893107	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6898215	0.87[ASN][1000 genomes]
rs7705209	0.88[ASN][1000 genomes]
rs7705396	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7705858	0.88[ASN][1000 genomes]
rs7705985	0.88[ASN][1000 genomes]
rs7715317	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7720779	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7722251	0.88[ASN][1000 genomes]
rs7724057	0.88[ASN][1000 genomes]
rs878607	0.88[ASN][1000 genomes]
rs991032	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36164800-36220800	Weak transcription	Gastric	stomach
2	chr5:36171800-36220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
4	chr5:36175200-36220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:36175600-36222400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:36179000-36222800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
8	chr5:36179200-36212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:36181400-36212800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:36182200-36214800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:36182800-36220400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:36182800-36220600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:36190000-36220800	Weak transcription	Spleen	Spleen
14	chr5:36190200-36220800	Weak transcription	Esophagus	oesophagus
15	chr5:36190400-36220800	Weak transcription	Lung	lung
16	chr5:36190600-36227400	Weak transcription	Thymus	Thymus
17	chr5:36191800-36220600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:36192000-36224200	Weak transcription	Aorta	Aorta
20	chr5:36192600-36227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:36193600-36220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:36193600-36220800	Weak transcription	Pancreas	Pancrea
23	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
24	chr5:36197000-36212400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:36197800-36220800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:36197800-36224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:36198200-36214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:36200000-36229600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:36200200-36220800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
32	chr5:36200400-36214800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:36201000-36214600	Weak transcription	HMEC	breast
34	chr5:36201200-36212400	Weak transcription	K562	blood
35	chr5:36201200-36212800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:36201200-36214800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:36201200-36214800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:36201200-36222000	Weak transcription	A549	lung
39	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:36201600-36212800	Weak transcription	Fetal Brain Female	brain
42	chr5:36202200-36211800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:36202800-36220800	Weak transcription	Right Ventricle	heart
44	chr5:36203000-36212000	Weak transcription	NHDF-Ad	bronchial
45	chr5:36203000-36212600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:36203000-36213000	Weak transcription	NH-A	brain
47	chr5:36203000-36219400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:36203000-36220600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:36203600-36219200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:36203600-36220200	Strong transcription	Placenta	Placenta

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