Variant report

Variant	rs1322319
Chromosome Location	chr10:38145509-38145510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr10:38145335-38146014	K562	blood:	n/a	n/a
2	MXI1	chr10:38145207-38147932	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:38119569..38121189-chr10:38145461..38148334,3	MCF-7	breast:
2	chr10:38123782..38128970-chr10:38145175..38149505,4	MCF-7	breast:
3	chr10:38144757..38148220-chr10:38264242..38266228,3	MCF-7	breast:
4	chr10:38145480..38148192-chr10:38381964..38384579,2	MCF-7	breast:
5	chr10:38144844..38146418-chr10:38148351..38151318,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236514	TF binding region
ENSG00000226447	Chromatin interaction
ENSG00000266800	Chromatin interaction
ENSG00000175395	Chromatin interaction
ENSG00000075407	Chromatin interaction
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1007133	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10827823	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10827824	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10827825	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10827828	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10827829	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10827831	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10827844	0.84[AMR][1000 genomes]
rs11011354	0.82[ASN][1000 genomes]
rs11011355	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11011363	0.83[ASN][1000 genomes]
rs11011366	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11011370	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11011372	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11011384	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011401	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11011405	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11011426	0.83[ASN][1000 genomes]
rs11011431	0.83[ASN][1000 genomes]
rs1148287	1.00[ASN][1000 genomes]
rs11492508	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11511139	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11511141	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11516808	0.80[ASN][1000 genomes]
rs11523837	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11594000	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11595684	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11597286	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11598044	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11599689	0.86[EUR][1000 genomes]
rs1208633	1.00[ASN][1000 genomes]
rs1208645	0.86[ASN][1000 genomes]
rs1208683	0.82[ASN][1000 genomes]
rs1208695	0.83[ASN][1000 genomes]
rs1208716	0.83[ASN][1000 genomes]
rs1208770	0.82[ASN][1000 genomes]
rs1208779	0.83[ASN][1000 genomes]
rs1212108	0.83[ASN][1000 genomes]
rs12267169	0.81[ASN][1000 genomes]
rs12357256	0.81[AMR][1000 genomes]
rs12357418	0.81[EUR][1000 genomes]
rs12358094	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12358108	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12359608	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12360411	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12570939	0.82[ASN][1000 genomes]
rs12571785	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12571820	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12763390	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12763409	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12768276	0.83[ASN][1000 genomes]
rs12768391	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12781703	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12782327	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12783666	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12783722	0.82[ASN][1000 genomes]
rs1735621	0.93[ASN][1000 genomes]
rs1735629	0.90[ASN][1000 genomes]
rs1735641	0.90[ASN][1000 genomes]
rs1742235	0.82[ASN][1000 genomes]
rs1779015	0.82[ASN][1000 genomes]
rs1779075	0.91[ASN][1000 genomes]
rs1779150	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2092993	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2092995	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2103936	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2142346	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2144845	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245081	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474549	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2738186	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2738187	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2738190	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2738191	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2738193	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2738207	0.83[ASN][1000 genomes]
rs2738209	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2738219	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2738222	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2749559	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2749575	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2749577	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2749587	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2749593	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2753877	0.82[ASN][1000 genomes]
rs2753878	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2753879	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2753880	0.90[ASN][1000 genomes]
rs2753882	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2799495	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2799496	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2799499	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2799501	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2799502	0.84[AMR][1000 genomes]
rs2799505	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2799506	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2799507	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2799509	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2891586	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35951606	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3824584	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3824585	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs594594	0.83[ASN][1000 genomes]
rs596118	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs615718	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61857002	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61858625	0.82[EUR][1000 genomes]
rs61858886	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61859667	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs628330	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs633029	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs633400	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs647617	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs650873	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs675628	0.83[ASN][1000 genomes]
rs688608	0.83[ASN][1000 genomes]
rs7077222	0.89[AMR][1000 genomes]
rs7077233	0.89[AMR][1000 genomes]
rs72639533	0.81[EUR][1000 genomes]
rs72639538	0.81[AMR][1000 genomes]
rs9417261	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9417262	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9417263	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9417264	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9417265	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9417267	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9417268	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418288	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418289	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418291	0.86[ASN][1000 genomes]
rs9418294	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418297	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9418298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9418299	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38126600-38145600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:38127000-38145600	Weak transcription	Colonic Mucosa	Colon
3	chr10:38127200-38145800	Weak transcription	Placenta	Placenta
4	chr10:38132400-38145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:38135000-38145600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:38135600-38145800	Weak transcription	Esophagus	oesophagus
7	chr10:38137200-38145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:38142800-38145600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr10:38143400-38145800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:38143600-38145600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:38143600-38145600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr10:38143800-38145600	Enhancers	HSMM	muscle
13	chr10:38143800-38145800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:38143800-38146000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:38143800-38147400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr10:38144000-38145600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:38144000-38145600	Enhancers	Liver	Liver
18	chr10:38144000-38147600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:38144200-38146800	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:38144200-38147600	Active TSS	Right Atrium	heart
21	chr10:38144400-38145600	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:38144400-38145600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:38144400-38145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:38144400-38145600	Enhancers	Adipose Nuclei	Adipose
25	chr10:38144400-38145600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr10:38144400-38145800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:38144400-38145800	Enhancers	Spleen	Spleen
28	chr10:38144400-38146000	Flanking Active TSS	Osteobl	bone
29	chr10:38144400-38147200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:38144400-38147200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:38144400-38147200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:38144400-38147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:38144400-38147800	Active TSS	NH-A	brain
34	chr10:38144600-38145600	Flanking Active TSS	Fetal Brain Male	brain
35	chr10:38144600-38145600	Enhancers	Fetal Intestine Small	intestine
36	chr10:38144600-38145600	Flanking Active TSS	Dnd41	blood
37	chr10:38144600-38145600	Enhancers	HUVEC	blood vessel
38	chr10:38144600-38145800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr10:38144600-38145800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:38144600-38145800	Flanking Active TSS	Fetal Heart	heart
41	chr10:38144600-38147600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr10:38144600-38147600	Active TSS	Psoas Muscle	Psoas
43	chr10:38144600-38147600	Active TSS	A549	lung
44	chr10:38144800-38146000	Active TSS	Fetal Brain Female	brain
45	chr10:38144800-38146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:38144800-38147200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:38144800-38147200	Active TSS	Brain Cingulate Gyrus	brain
48	chr10:38144800-38147200	Active TSS	Rectal Smooth Muscle	rectum
49	chr10:38144800-38147200	Active TSS	Thymus	Thymus
50	chr10:38144800-38147600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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