Variant report

Variant	rs71508774
Chromosome Location	chr9:19083583-19083584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10465047	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10511670	0.89[EUR][1000 genomes]
rs10511671	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10811112	0.90[ASN][1000 genomes]
rs10811113	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10963943	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10963944	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10963950	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10963953	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10963955	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963958	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963962	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963964	0.81[ASN][1000 genomes]
rs11788135	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13291632	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13302453	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16937320	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291502	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35448309	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35553284	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36087651	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780221	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7026759	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7031392	0.80[ASN][1000 genomes]
rs7040525	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71508775	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71508776	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73645573	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7852850	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7864553	0.90[ASN][1000 genomes]
rs7865126	0.87[ASN][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	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv2764156	chr9:19076894-19097008	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:19051800-19089000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:19052800-19092400	Weak transcription	Fetal Brain Male	brain
4	chr9:19054400-19097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:19054800-19098200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:19055600-19091200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr9:19055800-19085200	Strong transcription	Liver	Liver
9	chr9:19055800-19096800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:19055800-19098200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:19056000-19086000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr9:19056000-19091200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr9:19056000-19096400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:19056600-19094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:19056600-19095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:19056600-19095400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:19056600-19096000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:19056800-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
21	chr9:19066400-19085600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr9:19066400-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
24	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
25	chr9:19067000-19084800	Weak transcription	Colonic Mucosa	Colon
26	chr9:19067400-19086600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:19068800-19085400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:19068800-19096800	Strong transcription	Fetal Thymus	thymus
29	chr9:19070000-19089400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:19070400-19090600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
32	chr9:19071400-19086800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr9:19073400-19087200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:19073600-19098400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:19074000-19083800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:19074000-19085200	Strong transcription	Fetal Stomach	stomach
37	chr9:19074400-19094200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:19074400-19094600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:19075000-19089000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:19075200-19084200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:19075400-19084000	Strong transcription	Fetal Intestine Small	intestine
42	chr9:19075400-19091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:19075600-19087200	Weak transcription	K562	blood
44	chr9:19075600-19092000	Weak transcription	Fetal Kidney	kidney
45	chr9:19075800-19087000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:19075800-19087800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:19076000-19084600	Weak transcription	Brain Hippocampus Middle	brain
48	chr9:19076800-19087000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:19077200-19091000	Weak transcription	Pancreas	Pancrea
50	chr9:19077400-19089000	Weak transcription	Brain Inferior Temporal Lobe	brain

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