Variant report

Variant	rs9918907
Chromosome Location	chr8:124816862-124816863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124814571..124816997-chr8:124820753..124822991,2	MCF-7	breast:
2	chr8:124805880..124808291-chr8:124814398..124816910,2	MCF-7	breast:
3	chr8:124812507..124814669-chr8:124816701..124818733,2	K562	blood:
4	chr8:124816253..124817960-chr8:124822217..124824038,2	K562	blood:
5	chr8:124807128..124809976-chr8:124813752..124817670,3	K562	blood:
6	chr8:124789924..124791442-chr8:124814631..124817453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087476	0.93[ASN][1000 genomes]
rs10102074	0.95[ASN][1000 genomes]
rs10481071	0.93[ASN][1000 genomes]
rs10481072	0.93[ASN][1000 genomes]
rs10481073	0.93[ASN][1000 genomes]
rs10481151	0.92[ASN][1000 genomes]
rs11986791	0.91[ASN][1000 genomes]
rs12334564	0.85[JPT][hapmap]
rs12541177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546891	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12549683	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13253599	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs13270541	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278088	0.92[ASN][1000 genomes]
rs1367829	0.81[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16898871	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1966620	0.89[ASN][1000 genomes]
rs2060112	0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2272683	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2385515	0.93[ASN][1000 genomes]
rs2385516	0.91[ASN][1000 genomes]
rs28495871	0.93[ASN][1000 genomes]
rs3911939	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4871414	0.93[ASN][1000 genomes]
rs4871415	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs60068098	0.91[ASN][1000 genomes]
rs6470186	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs66474276	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66515434	0.93[ASN][1000 genomes]
rs67139073	0.93[ASN][1000 genomes]
rs67237665	0.91[ASN][1000 genomes]
rs67958403	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6985019	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6986384	0.93[ASN][1000 genomes]
rs6988602	0.91[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.85[ASN][1000 genomes]
rs6990565	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998271	0.91[ASN][1000 genomes]
rs7012004	0.90[ASN][1000 genomes]
rs7015861	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72715071	0.85[ASN][1000 genomes]
rs72715072	0.86[ASN][1000 genomes]
rs73337418	0.93[ASN][1000 genomes]
rs73337464	0.93[ASN][1000 genomes]
rs73337467	0.93[ASN][1000 genomes]
rs73337469	0.93[ASN][1000 genomes]
rs7815695	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7827025	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7827665	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7828192	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833650	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846164	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs874205	0.93[ASN][1000 genomes]
rs874206	0.93[ASN][1000 genomes]
rs874207	0.93[ASN][1000 genomes]
rs9297675	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs9297676	0.93[ASN][1000 genomes]
rs9656947	0.84[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv972575	chr8:124810138-124821383	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9918907	FAM91A1	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
3	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:124787600-124818800	Strong transcription	Liver	Liver
8	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
10	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
16	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:124799400-124821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:124799600-124822600	Weak transcription	Small Intestine	intestine
26	chr8:124800200-124822600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:124808400-124819400	Weak transcription	Spleen	Spleen
30	chr8:124808400-124820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
32	chr8:124808600-124819200	Weak transcription	Fetal Heart	heart
33	chr8:124808600-124822800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:124809000-124819400	Weak transcription	Right Ventricle	heart
35	chr8:124809200-124819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:124809800-124819200	Weak transcription	Aorta	Aorta
37	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
39	chr8:124810600-124817600	Weak transcription	Hela-S3	cervix
40	chr8:124810600-124818400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:124810600-124819400	Weak transcription	Fetal Stomach	stomach
42	chr8:124810600-124831600	Weak transcription	Gastric	stomach
43	chr8:124811200-124818800	Weak transcription	Thymus	Thymus
44	chr8:124811600-124818400	Weak transcription	Lung	lung
45	chr8:124811600-124830400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:124812600-124821000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:124812800-124829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:124813000-124830600	Weak transcription	Colonic Mucosa	Colon
49	chr8:124813200-124818000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:124813200-124818400	Weak transcription	Brain Inferior Temporal Lobe	brain

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