Variant report

Variant	rs7865429
Chromosome Location	chr9:2737602-2737603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10967738	1.00[MEX][hapmap]
rs57103855	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73386940	1.00[AMR][1000 genomes]
rs73388724	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7847058	1.00[MEX][hapmap]
rs7875691	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892079	chr9:2681430-2931341	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv531565	chr9:2682523-2784028	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv516425	chr9:2690980-2790307	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv892081	chr9:2691186-2851026	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1032667	chr9:2691667-2788242	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1019973	chr9:2691812-2790419	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv539935	chr9:2691812-2790419	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv892082	chr9:2699606-2833267	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1021572	chr9:2703159-2790123	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv1032100	chr9:2720207-2766110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1033982	chr9:2724666-2780665	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv539936	chr9:2724666-2780665	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv1023850	chr9:2736931-2790123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7865429	HEBP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
2	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:2723200-2758000	Weak transcription	HSMM	muscle
5	chr9:2723200-2768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:2724000-2746400	Weak transcription	NHEK	skin
7	chr9:2724800-2746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:2726200-2768400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:2727000-2744600	Weak transcription	Spleen	Spleen
10	chr9:2728200-2746000	Weak transcription	Gastric	stomach
11	chr9:2728200-2755600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:2728200-2761200	Weak transcription	GM12878-XiMat	blood
13	chr9:2728200-2768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:2728400-2741400	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:2728400-2745600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:2728400-2746000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:2728400-2746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:2728400-2759400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:2728400-2759400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:2728600-2743800	Weak transcription	K562	blood
21	chr9:2728600-2746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:2728600-2746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:2728600-2758800	Weak transcription	Fetal Lung	lung
24	chr9:2728600-2759200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:2728600-2768400	Weak transcription	Primary B cells from cord blood	blood
26	chr9:2728600-2772400	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:2728800-2745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:2728800-2745800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:2728800-2750600	Weak transcription	HepG2	liver
30	chr9:2729200-2745800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:2729200-2746000	Weak transcription	A549	lung
32	chr9:2729200-2768400	Weak transcription	NHLF	lung
33	chr9:2729200-2768800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:2729400-2741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:2729400-2745600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:2729600-2738400	Weak transcription	NH-A	brain
37	chr9:2729600-2739000	Weak transcription	Pancreas	Pancrea
38	chr9:2729600-2740400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:2729600-2740400	Weak transcription	Osteobl	bone
40	chr9:2729600-2745600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:2729600-2747000	Weak transcription	Right Ventricle	heart
42	chr9:2729600-2759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:2729600-2768400	Weak transcription	HMEC	breast
44	chr9:2730000-2759000	Weak transcription	NHDF-Ad	bronchial
45	chr9:2730600-2745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:2731600-2744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:2731600-2745600	Weak transcription	Fetal Stomach	stomach
48	chr9:2732000-2739000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:2732200-2741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:2733000-2740200	Weak transcription	Ovary	ovary

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