Variant report

Variant	rs10230784
Chromosome Location	chr7:99113672-99113673
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	chr7:99113164..99116014-chr7:99116826..99119364,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10215765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215854	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226310	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10235235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236240	1.00[ASN][1000 genomes]
rs10240199	0.81[EUR][1000 genomes]
rs10264505	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265385	0.81[EUR][1000 genomes]
rs10268984	1.00[ASN][1000 genomes]
rs10273424	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275381	1.00[ASN][1000 genomes]
rs10277447	1.00[ASN][1000 genomes]
rs10808111	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808112	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953288	1.00[ASN][1000 genomes]
rs10953289	1.00[ASN][1000 genomes]
rs11555142	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761528	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766423	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971640	1.00[ASN][1000 genomes]
rs11973173	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973801	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974593	1.00[ASN][1000 genomes]
rs11978345	1.00[ASN][1000 genomes]
rs11978582	1.00[ASN][1000 genomes]
rs11980995	1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	1.00[ASN][1000 genomes]
rs12531852	1.00[ASN][1000 genomes]
rs12533251	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535424	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13227522	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243267	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161687	1.00[ASN][1000 genomes]
rs17161761	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003498	1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28419687	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602855	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627543	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34111611	1.00[ASN][1000 genomes]
rs34257469	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35183025	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296070	1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45618033	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947941	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947974	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955891	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960810	1.00[ASN][1000 genomes]
rs704798	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[ASN][1000 genomes]
rs7778859	1.00[ASN][1000 genomes]
rs9632722	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656060	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10230784	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99103800-99125600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:99104200-99114000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:99104200-99118600	Weak transcription	Right Atrium	heart
4	chr7:99104200-99123000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:99105000-99113800	Weak transcription	NHLF	lung
6	chr7:99105000-99114000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:99105000-99114000	Weak transcription	Fetal Kidney	kidney
8	chr7:99105000-99114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:99105000-99126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:99105000-99126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:99105000-99128000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:99105000-99128000	Weak transcription	Fetal Heart	heart
13	chr7:99105000-99128800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:99105000-99129400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:99105400-99115800	Strong transcription	Fetal Intestine Small	intestine
16	chr7:99105400-99125400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:99105400-99126200	Weak transcription	Stomach Mucosa	stomach
18	chr7:99105600-99113800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:99105600-99113800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:99105600-99124400	Weak transcription	Psoas Muscle	Psoas
21	chr7:99105800-99114400	Weak transcription	Fetal Brain Male	brain
22	chr7:99107000-99119600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:99107000-99126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:99107200-99115400	Strong transcription	Brain Germinal Matrix	brain
25	chr7:99107200-99116000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:99107400-99116200	Strong transcription	Placenta	Placenta
27	chr7:99107400-99118400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:99107400-99118800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:99107400-99126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:99107600-99126000	Strong transcription	Fetal Stomach	stomach
31	chr7:99107800-99118800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:99108200-99114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:99108200-99114800	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:99108200-99118600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr7:99108400-99115000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:99108400-99115400	Strong transcription	Thymus	Thymus
37	chr7:99108400-99115800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:99108400-99118000	Strong transcription	Primary T cells from cord blood	blood
39	chr7:99108400-99118600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:99108400-99126000	Strong transcription	Fetal Thymus	thymus
41	chr7:99108600-99114800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:99108600-99114800	Strong transcription	HepG2	liver
43	chr7:99108600-99115000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:99108600-99115200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:99108600-99115200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr7:99108600-99116000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:99108600-99116000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:99108600-99116000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:99108600-99116200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:99108600-99118400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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