Variant report

Variant	rs4918943
Chromosome Location	chr10:97278922-97278923
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	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10509691	0.85[JPT][hapmap]
rs1075529	0.87[EUR][1000 genomes]
rs11188337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11188342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12221125	0.95[ASN][1000 genomes]
rs12252701	0.95[JPT][hapmap]
rs1409712	0.87[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1409713	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1409714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17110913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1998911	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4917693	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4917694	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917696	0.95[JPT][hapmap]
rs4918941	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59521949	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61869980	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7071071	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs7089353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7092561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7100779	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs752913	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7896439	0.96[ASN][1000 genomes]
rs7911804	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7923718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs943345	0.84[MEX][hapmap]
rs943347	0.94[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9663482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9783274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4918943	AVPI1	cis	parietal	SCAN
rs4918943	DNTT	cis	cerebellum	SCAN
rs4918943	STX12	trans	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97269000-97282600	Weak transcription	Fetal Kidney	kidney
2	chr10:97270600-97279200	Enhancers	Left Ventricle	heart
3	chr10:97270600-97279200	Enhancers	Right Atrium	heart
4	chr10:97270600-97279200	Enhancers	Stomach Mucosa	stomach
5	chr10:97270600-97283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:97271000-97281200	Enhancers	Right Ventricle	heart
7	chr10:97271400-97279800	Enhancers	Fetal Muscle Leg	muscle
8	chr10:97271400-97279800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:97271600-97279800	Enhancers	Fetal Heart	heart
10	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:97273400-97279800	Enhancers	Colon Smooth Muscle	Colon
12	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:97274200-97279200	Enhancers	Pancreas	Pancrea
14	chr10:97274400-97280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:97275200-97279800	Enhancers	Brain Anterior Caudate	brain
16	chr10:97275600-97279400	Enhancers	Aorta	Aorta
17	chr10:97275800-97279800	Enhancers	HepG2	liver
18	chr10:97276200-97279400	Enhancers	K562	blood
19	chr10:97276400-97279200	Enhancers	HSMMtube	muscle
20	chr10:97276400-97279600	Enhancers	Liver	Liver
21	chr10:97276600-97279200	Enhancers	Gastric	stomach
22	chr10:97276600-97279600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:97276600-97279800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:97276600-97283400	Enhancers	Fetal Brain Male	brain
25	chr10:97276800-97280000	Enhancers	Fetal Stomach	stomach
26	chr10:97277000-97279000	Enhancers	Psoas Muscle	Psoas
27	chr10:97277000-97279000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr10:97277000-97279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:97277000-97279200	Enhancers	Brain Germinal Matrix	brain
30	chr10:97277000-97279200	Enhancers	Fetal Intestine Large	intestine
31	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
32	chr10:97277200-97279000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:97277200-97279200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:97277200-97279400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:97277200-97279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:97277200-97279800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:97277400-97279000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr10:97277400-97279200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:97277400-97279200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr10:97277600-97279000	Enhancers	HSMM	muscle
41	chr10:97277600-97279200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:97277600-97279200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr10:97277600-97279400	Enhancers	Brain Cingulate Gyrus	brain
44	chr10:97277600-97279400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr10:97277600-97279600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr10:97277600-97279600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:97277800-97279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:97277800-97279800	Enhancers	Brain Angular Gyrus	brain
49	chr10:97277800-97280800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:97278000-97279000	Weak transcription	Brain Substantia Nigra	brain

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