Variant report

Variant	rs10123973
Chromosome Location	chr9:14672443-14672444
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	chr9:14671286..14673264-chr9:14676237..14678702,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10114824	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10119944	0.89[ASN][1000 genomes]
rs10120588	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10124026	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10481503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10481504	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10961638	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10961639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12337006	0.90[ASN][1000 genomes]
rs12346636	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2382478	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs28537759	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28625419	0.84[ASN][1000 genomes]
rs2890987	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4740583	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs55658273	0.84[ASN][1000 genomes]
rs60495987	0.89[ASN][1000 genomes]
rs62535360	0.82[ASN][1000 genomes]
rs72704935	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72704961	0.88[ASN][1000 genomes]
rs9298702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9298706	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv521363	chr9:14566406-14691897	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892608	chr9:14589173-14689088	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv892611	chr9:14635546-14676174	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv613644	chr9:14662171-14689594	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3375956	chr9:14663001-14681323	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:14634600-14692400	Weak transcription	Gastric	stomach
4	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
5	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
7	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
8	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
9	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
10	chr9:14655200-14679000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:14655400-14681400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:14655400-14681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
16	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
17	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:14655400-14691400	Weak transcription	A549	lung
19	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:14655600-14680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
22	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
23	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
25	chr9:14655800-14686200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr9:14655800-14686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
32	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
33	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:14657200-14686600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr9:14657400-14686400	Weak transcription	Fetal Intestine Small	intestine
36	chr9:14658200-14677800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:14658400-14676800	Weak transcription	Liver	Liver
38	chr9:14658400-14685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:14658600-14680800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr9:14658600-14688800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:14659000-14686200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:14659200-14686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:14659600-14685800	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:14660000-14675800	Weak transcription	Primary B cells from cord blood	blood
46	chr9:14660000-14681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:14660000-14686600	Weak transcription	Fetal Stomach	stomach
48	chr9:14660200-14691000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:14663000-14686200	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:14663200-14689400	Weak transcription	Brain Cingulate Gyrus	brain

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