Variant report

Variant	rs10226310
Chromosome Location	chr7:99118320-99118321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99117222..99119486-chr7:99149740..99151763,2	K562	blood:
2	chr7:99116425..99120666-chr7:99212380..99216920,6	MCF-7	breast:
3	chr7:99113164..99116014-chr7:99116826..99119364,3	K562	blood:

Variant related genes	Relation type
ENSG00000221909	Chromatin interaction
ENSG00000197037	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10215765	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215854	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.90[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[CHB][hapmap];1.00[ASN][1000 genomes]
rs10273424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275381	1.00[ASN][1000 genomes]
rs10277447	1.00[ASN][1000 genomes]
rs10808111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808112	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953288	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10953289	1.00[ASN][1000 genomes]
rs11555142	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761528	1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766423	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971640	1.00[ASN][1000 genomes]
rs11973173	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11978345	1.00[CHB][hapmap];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[CHB][hapmap];1.00[ASN][1000 genomes]
rs12533251	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535424	1.00[CEU][hapmap];1.00[CHB][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161687	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17161761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003498	1.00[ASN][1000 genomes]
rs28371764	1.00[CHB][hapmap];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]
rs28862110	1.00[CEU][hapmap]
rs34096782	1.00[ASN][1000 genomes]
rs34111611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34257469	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35183025	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296070	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45618033	0.82[AFR][1000 genomes];0.87[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];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	0.84[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955891	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960810	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs704798	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[CHB][hapmap];1.00[ASN][1000 genomes]
rs7778859	1.00[ASN][1000 genomes]
rs9632722	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656060	0.86[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
rs10226310	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	chr7:99104200-99118600	Weak transcription	Right Atrium	heart
3	chr7:99104200-99123000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:99105000-99126000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:99105000-99126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:99105000-99128000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:99105000-99128000	Weak transcription	Fetal Heart	heart
8	chr7:99105000-99128800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:99105000-99129400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:99105400-99125400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99105400-99126200	Weak transcription	Stomach Mucosa	stomach
12	chr7:99105600-99124400	Weak transcription	Psoas Muscle	Psoas
13	chr7:99107000-99119600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:99107000-99126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:99107400-99118400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:99107400-99118800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:99107400-99126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:99107600-99126000	Strong transcription	Fetal Stomach	stomach
19	chr7:99107800-99118800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:99108200-99118600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr7:99108400-99118600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:99108400-99126000	Strong transcription	Fetal Thymus	thymus
23	chr7:99108600-99118400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:99108600-99125200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:99108600-99126200	Strong transcription	Dnd41	blood
26	chr7:99110000-99118600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:99110000-99121000	Strong transcription	Fetal Intestine Large	intestine
28	chr7:99110400-99122400	Weak transcription	Right Ventricle	heart
29	chr7:99111800-99123400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:99112200-99121200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:99112200-99123600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:99112400-99127400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:99113000-99118600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:99113200-99127800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:99113600-99125600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:99113800-99118600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr7:99114400-99123000	Weak transcription	Colonic Mucosa	Colon
38	chr7:99114600-99123000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:99114600-99123000	Weak transcription	Small Intestine	intestine
40	chr7:99114600-99123000	Weak transcription	NHEK	skin
41	chr7:99114600-99123200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:99114600-99123200	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:99114600-99123400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:99114600-99123600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:99114600-99123600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:99114600-99123600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:99114600-99123600	Weak transcription	Pancreas	Pancrea
48	chr7:99114600-99123800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:99114800-99123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:99114800-99126400	Weak transcription	Fetal Brain Male	brain

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