Variant report

Variant	rs9295383
Chromosome Location	chr6:167339441-167339442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167324476..167326634-chr6:167338829..167341348,2	K562	blood:
2	chr6:167339433..167341286-chr6:167346948..167348863,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10806874	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11159	0.89[CHB][hapmap]
rs13202098	0.93[ASN][1000 genomes]
rs1536642	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2876012	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4710138	0.85[EUR][1000 genomes]
rs4710140	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4710142	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6940854	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295380	0.91[ASN][1000 genomes]
rs9295382	0.93[ASN][1000 genomes]
rs9355606	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9355607	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9356543	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9457244	0.87[ASN][1000 genomes]
rs9459805	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9459806	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
13	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
15	esv3359421	chr6:167338012-167340510	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9295383	FAM120B	cis	cerebellum	SCAN
rs9295383	SMOC2	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167315800-167341600	Weak transcription	Pancreas	Pancrea
2	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:167321200-167340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:167321600-167340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:167321800-167342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:167322000-167340200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:167322000-167340600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:167322000-167341600	Weak transcription	Gastric	stomach
10	chr6:167322400-167340000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:167322600-167340000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:167326600-167340400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:167330600-167340200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:167330800-167340600	Weak transcription	HepG2	liver
15	chr6:167330800-167340800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:167331000-167340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:167332600-167341600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:167332800-167340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:167332800-167342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:167333400-167340200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:167334000-167343600	Weak transcription	Fetal Brain Male	brain
22	chr6:167334200-167340200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:167335200-167340400	Weak transcription	Brain Germinal Matrix	brain
24	chr6:167335400-167340400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:167335400-167343800	Weak transcription	Right Atrium	heart
26	chr6:167335600-167346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:167336600-167340400	Weak transcription	Primary B cells from cord blood	blood
28	chr6:167336600-167342200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:167337200-167340200	Weak transcription	Left Ventricle	heart
30	chr6:167337200-167342400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:167337400-167340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:167337400-167340200	Weak transcription	Fetal Thymus	thymus
33	chr6:167337400-167343000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:167337600-167342200	Weak transcription	Colonic Mucosa	Colon
35	chr6:167337600-167350000	Weak transcription	Ovary	ovary
36	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:167337800-167340200	Weak transcription	Fetal Stomach	stomach
38	chr6:167337800-167340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:167337800-167340600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:167338200-167340400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:167338200-167356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:167338400-167339600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:167338400-167340600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:167338400-167342000	Weak transcription	Brain Anterior Caudate	brain
45	chr6:167338600-167340200	Weak transcription	Fetal Intestine Small	intestine
46	chr6:167338600-167340200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:167338600-167340400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:167338600-167340800	Enhancers	Right Ventricle	heart
49	chr6:167338800-167340400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:167338800-167342400	Weak transcription	Brain Inferior Temporal Lobe	brain

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