Variant report

Variant	rs2986683
Chromosome Location	chr9:3296172-3296173
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	chr9:3296136..3298871-chr9:3302065..3304976,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2920360	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920374	1.00[CEU][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2986685	1.00[CEU][hapmap]
rs2991290	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991291	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991292	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991293	0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991295	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991296	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991325	0.91[EUR][1000 genomes]
rs7021959	0.88[AMR][1000 genomes];0.91[EUR][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	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv466090	chr9:3237378-3349487	Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv613145	chr9:3237378-3349487	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1032529	chr9:3254763-3319778	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv539941	chr9:3254763-3319778	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr9:3244200-3338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:3263200-3297800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:3265600-3332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:3272000-3302800	Weak transcription	Ovary	ovary
5	chr9:3276800-3299400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:3277400-3310600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:3277400-3337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:3286600-3296800	Weak transcription	Aorta	Aorta
9	chr9:3286600-3307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:3287600-3296400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:3288000-3305600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:3288200-3296800	Weak transcription	Left Ventricle	heart
13	chr9:3288200-3309000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:3288400-3299200	Weak transcription	Primary B cells from cord blood	blood
16	chr9:3288600-3318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:3290200-3299600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:3290600-3299200	Weak transcription	GM12878-XiMat	blood
19	chr9:3290800-3309200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:3291000-3296800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:3291000-3299000	Weak transcription	Fetal Brain Male	brain
22	chr9:3291400-3338600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:3291800-3318800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:3292000-3300000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:3293200-3329600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:3293400-3299800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:3293400-3312800	Weak transcription	Primary T cells from cord blood	blood
28	chr9:3293400-3312800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:3293400-3318800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:3293600-3301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:3293600-3352600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:3294600-3299400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:3294800-3321200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:3295200-3299400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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