Variant report

Variant	rs16868133
Chromosome Location	chr8:102663410-102663411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102649060..102651936-chr8:102661670..102663613,2	MCF-7	breast:
2	chr8:102661081..102663898-chr8:102668064..102670538,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10090010	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs10091039	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099482	0.85[EUR][1000 genomes]
rs10099649	0.85[EUR][1000 genomes]
rs10101770	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10106317	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10107483	1.00[CEU][hapmap]
rs10108888	1.00[CEU][hapmap]
rs10111577	0.85[EUR][1000 genomes]
rs10111904	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16868083	1.00[CHB][hapmap]
rs16868132	0.87[EUR][1000 genomes]
rs16868134	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868139	0.89[EUR][1000 genomes]
rs16868159	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16868178	0.87[CEU][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs16868196	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16868197	0.85[EUR][1000 genomes]
rs2275994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2387626	1.00[CHB][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes]
rs28469577	0.83[EUR][1000 genomes]
rs3939935	0.85[EUR][1000 genomes]
rs4507732	1.00[CHB][hapmap]
rs4734564	0.90[EUR][1000 genomes]
rs4734582	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6996060	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7816488	1.00[CEU][hapmap]
rs7816613	1.00[CEU][hapmap]
rs7821322	1.00[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs7821561	1.00[CEU][hapmap];0.84[TSI][hapmap];0.84[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	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3402975	chr8:102662576-102666774	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16868133	RIMS2	cis	parietal	SCAN
rs16868133	ODF1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102644600-102663800	Weak transcription	Lung	lung
2	chr8:102644800-102674600	Weak transcription	Ovary	ovary
3	chr8:102648600-102663600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:102650600-102664400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:102650800-102664600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:102651400-102681200	Weak transcription	Stomach Mucosa	stomach
7	chr8:102655200-102663800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:102655200-102669400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:102655600-102664400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:102655600-102664400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr8:102656400-102663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:102657200-102668200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:102658600-102665800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr8:102659000-102664400	Strong transcription	Placenta	Placenta
15	chr8:102659200-102679400	Weak transcription	HMEC	breast
16	chr8:102661200-102663800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:102661200-102664400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:102661200-102678600	Weak transcription	Fetal Stomach	stomach
19	chr8:102661600-102678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:102661800-102663600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:102661800-102663800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:102661800-102663800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:102661800-102663800	Weak transcription	Fetal Intestine Small	intestine
24	chr8:102661800-102663800	Weak transcription	Gastric	stomach
25	chr8:102661800-102663800	Weak transcription	Pancreas	Pancrea
26	chr8:102661800-102664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:102661800-102668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:102661800-102678600	Weak transcription	Colonic Mucosa	Colon
29	chr8:102662000-102663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:102662000-102664600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:102662000-102668200	Weak transcription	Esophagus	oesophagus
32	chr8:102662400-102663800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:102662400-102668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:102662600-102668400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:102663000-102667600	Weak transcription	NHEK	skin
36	chr8:102663000-102668200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:102663000-102676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:102663200-102663800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:102663400-102664200	Strong transcription	Placenta Amnion	Placenta Amnion

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