Variant report

Variant	rs4741349
Chromosome Location	chr9:14222416-14222417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10961430	0.92[ASN][1000 genomes]
rs2382444	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4741350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4741351	0.88[ASN][1000 genomes]
rs7040930	0.87[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:14214200-14222600	Enhancers	Osteobl	bone
4	chr9:14218000-14222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:14218000-14222600	Enhancers	Colon Smooth Muscle	Colon
6	chr9:14218000-14222600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:14219800-14222600	Enhancers	Psoas Muscle	Psoas
8	chr9:14219800-14222600	Enhancers	HMEC	breast
9	chr9:14219800-14222800	Enhancers	Right Ventricle	heart
10	chr9:14220000-14222600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:14220000-14222600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:14220000-14222800	Enhancers	Right Atrium	heart
13	chr9:14220000-14224000	Enhancers	Pancreas	Pancrea
14	chr9:14220000-14224200	Enhancers	Left Ventricle	heart
15	chr9:14220200-14222600	Enhancers	Hela-S3	cervix
16	chr9:14220400-14222600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:14220400-14222800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:14220800-14222600	Enhancers	Lung	lung
19	chr9:14220800-14222600	Enhancers	NHEK	skin
20	chr9:14220800-14223000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:14221000-14222600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:14221000-14222600	Flanking Active TSS	A549	lung
23	chr9:14221000-14222800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:14221000-14232000	Weak transcription	Fetal Brain Male	brain
25	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:14221400-14222600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:14221400-14222600	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:14221600-14222600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:14221800-14222600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:14221800-14230000	Weak transcription	Spleen	Spleen
31	chr9:14221800-14237400	Weak transcription	Aorta	Aorta
32	chr9:14221800-14237400	Weak transcription	Gastric	stomach
33	chr9:14222000-14224200	Enhancers	HUVEC	blood vessel
34	chr9:14222000-14232000	Weak transcription	Brain Germinal Matrix	brain
35	chr9:14222200-14222600	Genic enhancers	Fetal Muscle Leg	muscle
36	chr9:14222200-14222800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr9:14222200-14224400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr9:14222200-14231200	Weak transcription	Fetal Brain Female	brain
39	chr9:14222200-14235200	Weak transcription	Fetal Intestine Small	intestine
40	chr9:14222400-14222600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:14222400-14223200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:14222400-14223200	Enhancers	Fetal Heart	heart
43	chr9:14222400-14223200	Weak transcription	Small Intestine	intestine
44	chr9:14222400-14226200	Weak transcription	Fetal Stomach	stomach
45	chr9:14222400-14230800	Weak transcription	Fetal Lung	lung
46	chr9:14222400-14232000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:14222400-14235200	Weak transcription	Liver	Liver
48	chr9:14222400-14235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:14222400-14236400	Weak transcription	HSMM	muscle
50	chr9:14222400-14236800	Weak transcription	NHLF	lung

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