Variant report

Variant	rs9378983
Chromosome Location	chr6:5705326-5705327
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	chr6:5704687..5707322-chr6:5708946..5711451,2	K562	blood:
2	chr6:5704009..5705520-chr6:5708074..5709705,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1001568	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs1005521	0.89[ASW][hapmap];0.84[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11752777	0.90[CHB][hapmap]
rs13213128	0.85[CHB][hapmap]
rs2142738	0.90[CHB][hapmap]
rs2326634	0.90[CHB][hapmap]
rs4959347	0.85[CHB][hapmap]
rs4960125	0.80[CHB][hapmap]
rs6918561	0.90[CHB][hapmap]
rs6918675	0.89[CHB][hapmap]
rs6935719	0.89[ASN][1000 genomes]
rs6939091	0.81[EUR][1000 genomes]
rs760675	0.90[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs7739358	0.84[CHB][hapmap]
rs7746913	0.85[CHB][hapmap]
rs7768893	0.82[EUR][1000 genomes]
rs877010	0.80[CHB][hapmap]
rs9328328	0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9378439	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9378979	0.90[CHB][hapmap]
rs9378980	0.80[CHB][hapmap]
rs9392088	0.81[EUR][1000 genomes]
rs9405281	0.85[CHB][hapmap]
rs9405859	0.85[CHB][hapmap]
rs9405863	0.81[CEU][hapmap];0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs9502329	0.89[ASN][1000 genomes]
rs9504488	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3473790	chr6:5692573-5707035	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3473791	chr6:5692573-5707035	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv823407	chr6:5692735-5706712	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv981100	chr6:5703106-5706653	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9378983	C6orf146	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
2	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
4	chr6:5684800-5706000	Weak transcription	Ovary	ovary
5	chr6:5695800-5709800	Weak transcription	Fetal Stomach	stomach
6	chr6:5696200-5707600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:5696200-5712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:5696400-5705400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:5699200-5705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:5699400-5708000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:5699400-5713200	Weak transcription	Esophagus	oesophagus
12	chr6:5699800-5715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:5700000-5705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:5700400-5708200	Weak transcription	Primary B cells from cord blood	blood
15	chr6:5701600-5705600	Weak transcription	Aorta	Aorta
16	chr6:5701600-5706600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:5701800-5707200	Weak transcription	Spleen	Spleen
18	chr6:5701800-5708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:5702000-5705800	Enhancers	Primary T cells from cord blood	blood
20	chr6:5702400-5709400	Weak transcription	Fetal Lung	lung
21	chr6:5703000-5706600	Enhancers	Fetal Thymus	thymus
22	chr6:5704200-5712600	Weak transcription	Lung	lung
23	chr6:5704400-5709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:5704600-5705400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:5704800-5707800	Enhancers	Dnd41	blood
26	chr6:5705000-5716600	Weak transcription	Fetal Intestine Small	intestine

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