Variant report

Variant	rs71506619
Chromosome Location	chr9:2772295-2772296
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	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13296647	1.00[EUR][1000 genomes]
rs35057534	1.00[AFR][1000 genomes]
rs35880375	1.00[AFR][1000 genomes]
rs62533896	1.00[AFR][1000 genomes]
rs62533910	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
16	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
17	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
18	nsv466087	chr9:2746548-2790307	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv613142	chr9:2746548-2790307	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1028011	chr9:2759097-2904277	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv1022873	chr9:2768825-2863264	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
2	chr9:2728600-2772400	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:2737200-2777000	Weak transcription	Esophagus	oesophagus
4	chr9:2746400-2772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:2746800-2773200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:2752200-2777000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:2759400-2773000	Weak transcription	Fetal Brain Male	brain
8	chr9:2759600-2776800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:2760200-2777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:2760600-2773000	Weak transcription	Psoas Muscle	Psoas
11	chr9:2763000-2772800	Weak transcription	Fetal Kidney	kidney
12	chr9:2764200-2775400	Weak transcription	Thymus	Thymus
13	chr9:2764800-2774200	Weak transcription	Brain Substantia Nigra	brain
14	chr9:2765800-2772800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:2765800-2791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:2766000-2773000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr9:2766000-2774600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:2766000-2775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:2766000-2777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:2766000-2777000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:2766200-2772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:2766800-2773200	Weak transcription	Brain Angular Gyrus	brain
23	chr9:2767800-2773000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:2767800-2773200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:2767800-2775600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:2768000-2772800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:2768000-2779200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:2768200-2782600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:2768400-2773200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr9:2768400-2773600	Strong transcription	Primary T cells from cord blood	blood
31	chr9:2768400-2774400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:2768400-2783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:2768600-2772800	Strong transcription	HSMM	muscle
34	chr9:2768600-2773200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr9:2768600-2773800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr9:2768800-2772800	Weak transcription	Pancreas	Pancrea
37	chr9:2768800-2777600	Weak transcription	Spleen	Spleen
38	chr9:2769000-2773000	Strong transcription	A549	lung
39	chr9:2769000-2773600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:2769800-2772800	Weak transcription	NHLF	lung
41	chr9:2769800-2775800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:2769800-2777600	Weak transcription	Small Intestine	intestine
43	chr9:2770000-2772800	Weak transcription	Left Ventricle	heart
44	chr9:2770000-2773000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:2770000-2773000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr9:2770000-2777600	Weak transcription	Right Ventricle	heart
47	chr9:2770200-2772400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:2770200-2772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:2770200-2772800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr9:2770200-2772800	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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