Variant report

Variant	rs399123
Chromosome Location	chr8:8747537-8747538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8640474..8642635-chr8:8745832..8748288,2	MCF-7	breast:
2	chr8:8742135..8744016-chr8:8747118..8749376,2	K562	blood:
3	chr8:8733670..8736303-chr8:8745304..8747711,2	K562	blood:
4	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1803827	chr8:8745741-8758058	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1825921	chr8:8745741-8758058	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1835162	chr8:8745741-8758058	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs399123	SGK223	cis	Thyroid	GTEx
rs399123	MFHAS1	cis	cerebellum	SCAN
rs399123	CTSB	cis	cerebellum	SCAN
rs399123	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs399123	DEFA5	cis	parietal	SCAN
rs399123	FLJ10661	cis	cerebellum	SCAN
rs399123	ERI1	cis	brain	BrainEAC

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:8743200-8748200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:8744000-8747600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:8745200-8747800	Active TSS	Brain Hippocampus Middle	brain
5	chr8:8745200-8747800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:8745200-8748600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:8745200-8749000	Active TSS	Brain Substantia Nigra	brain
8	chr8:8745200-8749200	Active TSS	Brain Angular Gyrus	brain
9	chr8:8745200-8749200	Active TSS	Brain Cingulate Gyrus	brain
10	chr8:8745200-8750200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr8:8745400-8747600	Active TSS	Aorta	Aorta
12	chr8:8745400-8747800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:8745400-8748200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr8:8745400-8748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:8745600-8747600	Active TSS	Left Ventricle	heart
16	chr8:8745600-8747600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:8745600-8747800	Enhancers	Primary B cells from cord blood	blood
18	chr8:8745600-8748000	Flanking Active TSS	Liver	Liver
19	chr8:8745600-8748200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:8745600-8748200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
21	chr8:8745600-8748200	Flanking Active TSS	Fetal Heart	heart
22	chr8:8745800-8747600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:8745800-8748000	Active TSS	Brain Anterior Caudate	brain
24	chr8:8745800-8748200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:8745800-8750600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:8746000-8747600	Active TSS	Fetal Intestine Large	intestine
27	chr8:8746000-8747600	Weak transcription	Gastric	stomach
28	chr8:8746000-8747600	Active TSS	Lung	lung
29	chr8:8746200-8747600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:8746200-8747600	Active TSS	A549	lung
31	chr8:8746200-8747800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr8:8746200-8749400	Enhancers	Stomach Mucosa	stomach
33	chr8:8746400-8747600	Weak transcription	Esophagus	oesophagus
34	chr8:8746400-8749600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:8746600-8747600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:8746800-8747600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:8746800-8747600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:8746800-8747800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
39	chr8:8747000-8747600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:8747000-8747600	Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:8747000-8747600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:8747000-8747600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:8747000-8747600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr8:8747000-8747600	Active TSS	Fetal Muscle Trunk	muscle
45	chr8:8747000-8747600	Flanking Active TSS	Fetal Stomach	stomach
46	chr8:8747000-8747600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:8747000-8747600	Flanking Active TSS	HMEC	breast
48	chr8:8747000-8747600	Flanking Active TSS	HUVEC	blood vessel
49	chr8:8747000-8747600	Flanking Active TSS	NHEK	skin
50	chr8:8747000-8747800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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