Variant report

Variant	rs16868196
Chromosome Location	chr8:102682242-102682243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102679834..102682568-chr8:103211962..103214498,2	MCF-7	breast:
2	chr8:102672754..102675270-chr8:102680844..102682730,2	MCF-7	breast:
3	chr8:102676339..102678674-chr8:102680968..102682901,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10090010	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10091039	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10093301	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10099482	0.86[EUR][1000 genomes]
rs10099649	0.86[EUR][1000 genomes]
rs10101770	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106317	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107483	1.00[CEU][hapmap]
rs10108888	1.00[CEU][hapmap]
rs10111577	0.90[EUR][1000 genomes]
rs10111904	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16868083	1.00[CHB][hapmap]
rs16868132	0.82[EUR][1000 genomes]
rs16868133	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16868134	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16868139	0.86[EUR][1000 genomes]
rs16868159	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16868178	0.87[CEU][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes]
rs16868197	0.90[EUR][1000 genomes]
rs2275994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2387626	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[ASN][1000 genomes]
rs28469577	0.84[EUR][1000 genomes]
rs3939935	0.88[EUR][1000 genomes]
rs4507732	1.00[CHB][hapmap]
rs4734564	0.85[EUR][1000 genomes]
rs4734582	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6996060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7816488	1.00[CEU][hapmap]
rs7816613	1.00[CEU][hapmap]
rs7821322	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7821561	1.00[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16868196	RIMS2	cis	parietal	SCAN
rs16868196	ODF1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102667600-102682800	Weak transcription	Aorta	Aorta
2	chr8:102670800-102699000	Weak transcription	Right Ventricle	heart
3	chr8:102672800-102682400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:102678800-102683800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:102679000-102682600	Weak transcription	Lung	lung
6	chr8:102679800-102683200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr8:102679800-102683800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr8:102680000-102698000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:102680200-102682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:102680200-102683400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:102680400-102682400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:102680400-102682600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:102680600-102682400	Weak transcription	Placenta	Placenta
14	chr8:102680600-102683400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr8:102680800-102682800	Enhancers	Fetal Lung	lung
16	chr8:102680800-102683000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:102681200-102682400	Weak transcription	Gastric	stomach
18	chr8:102681200-102682600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:102681200-102682800	Strong transcription	Pancreas	Pancrea
20	chr8:102681200-102683200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:102681400-102682400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:102682200-102682400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:102682200-102683200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:102682200-102683200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr8:102682200-102683200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:102682200-102683200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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