Variant report

Variant	rs73285253
Chromosome Location	chr8:103413326-103413327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103354174..103356522-chr8:103413215..103415897,2	MCF-7	breast:
2	chr8:103251257..103253037-chr8:103411705..103414273,2	MCF-7	breast:
3	chr8:103409780..103414303-chr8:103416833..103419035,4	MCF-7	breast:
4	chr8:103412729..103414458-chr8:103434328..103437260,2	MCF-7	breast:
5	chr8:103412551..103414334-chr8:103414528..103416679,2	MCF-7	breast:
6	chr8:103411798..103414097-chr8:103416318..103420383,4	MCF-7	breast:
7	chr8:103412213..103414330-chr8:103420838..103423448,2	MCF-7	breast:
8	chr8:103413097..103415082-chr8:103611683..103614230,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16869317	1.00[EUR][1000 genomes]
rs16869318	1.00[EUR][1000 genomes]
rs16869320	1.00[EUR][1000 genomes]
rs16869360	1.00[EUR][1000 genomes]
rs16869384	1.00[EUR][1000 genomes]
rs16869390	1.00[EUR][1000 genomes]
rs16869421	1.00[EUR][1000 genomes]
rs28927984	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58936362	1.00[EUR][1000 genomes]
rs60133998	1.00[EUR][1000 genomes]
rs60370901	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6982960	1.00[EUR][1000 genomes]
rs7002260	1.00[EUR][1000 genomes]
rs7006719	1.00[EUR][1000 genomes]
rs73283367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283374	1.00[EUR][1000 genomes]
rs73283377	1.00[EUR][1000 genomes]
rs73283386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283402	1.00[EUR][1000 genomes]
rs73285212	1.00[EUR][1000 genomes]
rs73285216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285234	1.00[EUR][1000 genomes]
rs73285256	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73285272	1.00[EUR][1000 genomes]
rs73285276	1.00[EUR][1000 genomes]
rs73285278	1.00[EUR][1000 genomes]
rs73285292	1.00[EUR][1000 genomes]
rs73285300	1.00[EUR][1000 genomes]
rs7813561	1.00[EUR][1000 genomes]
rs7819190	1.00[EUR][1000 genomes]
rs7844478	1.00[EUR][1000 genomes]
rs7845522	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
6	chr8:103397000-103413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
9	chr8:103400800-103414800	Weak transcription	HUVEC	blood vessel
10	chr8:103403400-103413600	Weak transcription	Gastric	stomach
11	chr8:103403400-103416800	Weak transcription	Placenta	Placenta
12	chr8:103403400-103420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:103403400-103423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103404400-103416200	Weak transcription	NHLF	lung
15	chr8:103405000-103416000	Weak transcription	NHDF-Ad	bronchial
16	chr8:103405200-103414800	Weak transcription	Osteobl	bone
17	chr8:103407000-103417000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:103407200-103415000	Weak transcription	NH-A	brain
19	chr8:103407400-103415000	Weak transcription	HMEC	breast
20	chr8:103407600-103413600	Weak transcription	Right Atrium	heart
21	chr8:103407600-103415400	Weak transcription	Aorta	Aorta
22	chr8:103407600-103421000	Weak transcription	Spleen	Spleen
23	chr8:103408200-103413600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:103408400-103413600	Weak transcription	Left Ventricle	heart
25	chr8:103408400-103413800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:103408400-103421000	Weak transcription	Thymus	Thymus
27	chr8:103408400-103422400	Weak transcription	Small Intestine	intestine
28	chr8:103408600-103413400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:103408600-103413600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:103408600-103414800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:103408600-103416000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:103408600-103416200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:103408600-103417600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:103408800-103414400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:103408800-103414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:103408800-103414800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:103408800-103415400	Weak transcription	Ovary	ovary
38	chr8:103408800-103415600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr8:103408800-103422000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:103409200-103416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103409600-103414200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:103409600-103414400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:103409600-103414400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:103409600-103416400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:103409800-103413600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:103410000-103414200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:103410000-103415800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:103410000-103420200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:103410400-103414800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:103410600-103422400	Weak transcription	Fetal Kidney	kidney

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