Variant report

Variant	rs6601443
Chromosome Location	chr8:10207943-10207944
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	chr8:10203991..10206007-chr8:10207098..10209172,2	K562	blood:
2	chr8:10205661..10208295-chr8:10208819..10211116,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10283145	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11774221	1.00[CHD][hapmap]
rs17151843	1.00[CHD][hapmap]
rs17151854	1.00[CHD][hapmap]
rs17708276	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17709397	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17765901	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs28406568	0.84[ASN][1000 genomes]
rs28507213	0.84[ASN][1000 genomes]
rs28712068	0.84[ASN][1000 genomes]
rs2952172	0.85[CEU][hapmap]
rs2952184	1.00[CHB][hapmap]
rs2952185	1.00[CHD][hapmap]
rs2975647	0.81[GIH][hapmap]
rs2975675	1.00[CHB][hapmap]
rs4260895	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs4433149	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs4610752	1.00[CHB][hapmap]
rs4840480	1.00[CHD][hapmap]
rs55768139	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601451	1.00[CHB][hapmap]
rs6982308	0.92[ASN][1000 genomes]
rs6984111	1.00[CHD][hapmap]
rs73195303	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818437	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824675	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7838901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841921	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1018940	chr8:10200886-10220973	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6601443	FAM167A	cis	parietal	SCAN
rs6601443	ERI1	cis	parietal	SCAN
rs6601443	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
4	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:10196800-10208000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:10196800-10214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:10196800-10228000	Weak transcription	Liver	Liver
8	chr8:10201800-10208200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:10203000-10208200	Weak transcription	Lung	lung
11	chr8:10203800-10208200	Weak transcription	Right Ventricle	heart
12	chr8:10204000-10219800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:10204200-10208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:10204200-10210400	Weak transcription	Right Atrium	heart
15	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:10204600-10208200	Weak transcription	Psoas Muscle	Psoas
17	chr8:10204600-10209600	Weak transcription	Left Ventricle	heart
18	chr8:10206000-10213600	Enhancers	Fetal Brain Male	brain
19	chr8:10206200-10208600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
21	chr8:10206400-10209800	Enhancers	Fetal Brain Female	brain
22	chr8:10206400-10210200	Enhancers	Primary T cells from cord blood	blood
23	chr8:10206600-10209800	Weak transcription	Fetal Heart	heart
24	chr8:10206800-10208000	Enhancers	Spleen	Spleen
25	chr8:10206800-10208200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:10206800-10209600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:10206800-10214600	Enhancers	Fetal Thymus	thymus
28	chr8:10207000-10208200	Weak transcription	Thymus	Thymus
29	chr8:10207000-10208600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:10207000-10209200	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:10207000-10210400	Weak transcription	Brain Germinal Matrix	brain
32	chr8:10207000-10210800	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:10207000-10211200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:10207200-10208200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10207200-10208600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:10207200-10208600	Enhancers	HepG2	liver
37	chr8:10207400-10208000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:10207400-10208600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:10207400-10209000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:10207400-10210600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:10207400-10211200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:10207400-10211200	Enhancers	Fetal Muscle Leg	muscle
43	chr8:10207600-10208200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:10207600-10208400	Flanking Active TSS	HSMM	muscle
45	chr8:10207600-10208600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr8:10207600-10208600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:10207600-10208600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:10207600-10208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:10207600-10208800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:10207800-10208000	Active TSS	Skeletal Muscle Male	skeletal muscle

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