Variant report

Variant	rs404994
Chromosome Location	chr9:71153066-71153067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10120859	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs10780986	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10868961	0.92[EUR][1000 genomes]
rs11142697	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs265072	0.96[AFR][1000 genomes]
rs265073	0.90[YRI][hapmap];0.94[AFR][1000 genomes]
rs265076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs265077	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs265078	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs265079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398222	0.87[ASN][1000 genomes]
rs4143073	0.90[YRI][hapmap]
rs4457398	0.90[YRI][hapmap]
rs6560203	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7034863	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7860486	0.81[YRI][hapmap]
rs7861495	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427847	chr9:70318730-71153527	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv893413	chr9:71130848-71196984	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71137600-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:71139600-71161600	Weak transcription	Spleen	Spleen
3	chr9:71145800-71161600	Weak transcription	Gastric	stomach
4	chr9:71146200-71155400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:71146400-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:71148000-71153800	Enhancers	Colon Smooth Muscle	Colon
7	chr9:71148000-71153800	Enhancers	Rectal Smooth Muscle	rectum
8	chr9:71148800-71156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:71149200-71154400	Weak transcription	Fetal Kidney	kidney
10	chr9:71149400-71155400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:71150200-71153800	Enhancers	HSMMtube	muscle
12	chr9:71150400-71153800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:71150800-71153800	Enhancers	Fetal Heart	heart
14	chr9:71151800-71153400	Enhancers	Fetal Lung	lung
15	chr9:71151800-71153600	Enhancers	Left Ventricle	heart
16	chr9:71151800-71153800	Enhancers	Fetal Brain Male	brain
17	chr9:71151800-71154200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr9:71152000-71153400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:71152000-71153600	Enhancers	Right Atrium	heart
20	chr9:71152000-71153800	Enhancers	Psoas Muscle	Psoas
21	chr9:71152200-71153200	Enhancers	Fetal Brain Female	brain
22	chr9:71152200-71154600	Weak transcription	Fetal Intestine Small	intestine
23	chr9:71152200-71155400	Weak transcription	Lung	lung
24	chr9:71152200-71161600	Weak transcription	Right Ventricle	heart
25	chr9:71152200-71170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71152400-71155800	Weak transcription	Stomach Mucosa	stomach
27	chr9:71152600-71153200	Enhancers	NHLF	lung
28	chr9:71152600-71153400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:71152800-71153600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr9:71153000-71153200	Enhancers	Aorta	Aorta
31	chr9:71153000-71153200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr9:71153000-71153800	Enhancers	Fetal Intestine Large	intestine
33	chr9:71153000-71155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:71153000-71156000	Weak transcription	Fetal Stomach	stomach

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