Variant report

Variant	rs12683997
Chromosome Location	chr9:14214149-14214150
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	chr9:14213715..14216528-chr9:14218687..14222056,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10115397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10115426	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12551855	0.85[CEU][hapmap]
rs12682686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682915	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923133	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16923134	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73645013	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73645016	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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
9	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:14203800-14214200	Weak transcription	Brain Substantia Nigra	brain
4	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
5	chr9:14203800-14219000	Weak transcription	Ovary	ovary
6	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
9	chr9:14206400-14215600	Weak transcription	NHLF	lung
10	chr9:14206600-14215800	Weak transcription	Hela-S3	cervix
11	chr9:14207800-14216600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:14209000-14217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:14209200-14216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:14209600-14214800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
17	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:14210000-14218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:14210000-14218000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:14210000-14218200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:14210200-14215600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:14210200-14218000	Weak transcription	Brain Angular Gyrus	brain
23	chr9:14210400-14218400	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:14211200-14214400	Enhancers	Stomach Mucosa	stomach
25	chr9:14211400-14215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:14211400-14216400	Enhancers	NHEK	skin
27	chr9:14211600-14215000	Enhancers	Liver	Liver
28	chr9:14211600-14216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:14212000-14220600	Weak transcription	Fetal Brain Male	brain
31	chr9:14212200-14214800	Enhancers	HUVEC	blood vessel
32	chr9:14212200-14216800	Enhancers	HMEC	breast
33	chr9:14212200-14218400	Weak transcription	HSMMtube	muscle
34	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
35	chr9:14212400-14215400	Weak transcription	HSMM	muscle
36	chr9:14212800-14214600	Enhancers	Colon Smooth Muscle	Colon
37	chr9:14212800-14215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:14213000-14214200	Enhancers	Fetal Intestine Large	intestine
39	chr9:14213000-14215800	Weak transcription	NH-A	brain
40	chr9:14213200-14214200	Weak transcription	Osteobl	bone
41	chr9:14213200-14214400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:14213200-14214600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:14213200-14214600	Enhancers	Adipose Nuclei	Adipose
44	chr9:14213200-14214600	Enhancers	Right Atrium	heart
45	chr9:14213200-14215000	Enhancers	Psoas Muscle	Psoas
46	chr9:14213200-14215200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:14213400-14214400	Enhancers	Aorta	Aorta
48	chr9:14213400-14214400	Enhancers	Gastric	stomach
49	chr9:14213400-14214400	Enhancers	Lung	lung
50	chr9:14213400-14214600	Enhancers	Left Ventricle	heart

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