Variant report

Variant	rs11791310
Chromosome Location	chr9:100005128-100005129
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	chr9:99999075..100002333-chr9:100004185..100008617,4	K562	blood:
2	chr9:99999075..100001905-chr9:100002725..100008617,7	K562	blood:

Variant related genes	Relation type
ENSG00000197816	Chromatin interaction
ENSG00000254483	Chromatin interaction
ENSG00000254876	Chromatin interaction
ENSG00000203279	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10116019	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10119245	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10122063	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10125198	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10435868	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10448274	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10817265	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10981209	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10981280	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10981288	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10981296	0.83[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10981329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981438	0.87[EUR][1000 genomes]
rs10981890	0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs11562326	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11581	0.86[JPT][hapmap]
rs11794422	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11998999	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12004930	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12005128	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12235305	0.87[EUR][1000 genomes]
rs12235734	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13297670	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13298346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13299627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13301357	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13302699	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1544203	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs1857083	0.83[AMR][1000 genomes]
rs1903635	0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs1947717	0.86[ASW][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap]
rs2169456	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2219664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2242187	0.93[ASW][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2306097	1.00[ASW][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2374923	0.82[AMR][1000 genomes]
rs2493442	0.91[CHB][hapmap];0.86[EUR][1000 genomes]
rs2493443	0.86[EUR][1000 genomes]
rs2502644	0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs2615143	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2615145	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2795365	0.86[EUR][1000 genomes]
rs2795367	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs2818238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2818239	0.86[EUR][1000 genomes]
rs2818243	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs28846196	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3214072	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs34382632	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34955252	0.86[EUR][1000 genomes]
rs35609998	0.87[EUR][1000 genomes]
rs3747489	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3747493	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3747496	1.00[ASW][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs3957904	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3994556	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4014789	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4237189	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4284138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4313271	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4366181	0.93[ASW][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4523384	0.87[EUR][1000 genomes]
rs4523385	0.81[ASW][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4626726	0.88[EUR][1000 genomes]
rs4743072	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4743076	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs4743077	0.93[ASW][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs4743084	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs55694850	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62556614	0.80[AMR][1000 genomes]
rs6478020	0.86[EUR][1000 genomes]
rs6478095	1.00[ASW][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7020393	0.91[JPT][hapmap]
rs7042707	0.91[JPT][hapmap]
rs713066	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs72747776	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7470446	0.85[EUR][1000 genomes]
rs750674	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7850392	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7850504	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7855366	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7855622	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7856924	0.83[EUR][1000 genomes]
rs7868563	0.82[EUR][1000 genomes]
rs7868806	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7869509	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7869568	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7869587	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7869959	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[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	nsv893608	chr9:99906545-100005128	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11791310	HSD17B3	cis	parietal	SCAN
rs11791310	ANKRD18CP	cis	Thyroid	GTEx
rs11791310	VN1R51P	cis	Thyroid	GTEx
rs11791310	LOC57653	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100001200-100011000	Weak transcription	Lung	lung
2	chr9:100001200-100017000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:100001200-100039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:100001400-100005800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:100001400-100010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:100001400-100014000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr9:100001400-100017600	Weak transcription	Left Ventricle	heart
8	chr9:100001400-100017800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100001600-100005800	Weak transcription	NHEK	skin
10	chr9:100001600-100012800	Weak transcription	Fetal Kidney	kidney
11	chr9:100001600-100014000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:100001600-100022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:100001600-100037400	Weak transcription	Primary T cells from cord blood	blood
14	chr9:100001800-100005600	Weak transcription	Osteobl	bone
15	chr9:100001800-100005800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:100001800-100012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:100002000-100005600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:100002000-100005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:100002000-100010400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:100002000-100011000	Weak transcription	Fetal Stomach	stomach
21	chr9:100002000-100011600	Weak transcription	Pancreas	Pancrea
22	chr9:100002000-100013200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:100002000-100013400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:100002000-100015200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:100002000-100016600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:100002000-100016600	Weak transcription	Thymus	Thymus
27	chr9:100002000-100018000	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:100002000-100023000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:100002000-100025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:100002000-100037400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:100002000-100037800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:100002000-100038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:100002000-100038600	Weak transcription	Fetal Intestine Large	intestine
34	chr9:100002000-100038600	Weak transcription	Fetal Intestine Small	intestine
35	chr9:100002000-100038800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:100002000-100038800	Weak transcription	Ovary	ovary
37	chr9:100002000-100038800	Weak transcription	Right Ventricle	heart
38	chr9:100002000-100039000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:100002000-100039600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:100002000-100039600	Weak transcription	Adipose Nuclei	Adipose
41	chr9:100002000-100039600	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:100002000-100039600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:100002000-100040400	Weak transcription	Spleen	Spleen
44	chr9:100002200-100010800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:100002200-100013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:100002200-100014600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:100002200-100038800	Weak transcription	Liver	Liver
48	chr9:100002200-100039400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:100002200-100039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:100002400-100010200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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