Variant report

Variant	rs3011791
Chromosome Location	chr10:52310421-52310422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52308145..52313390-chr10:52380498..52385309,7	K562	blood:
2	chr10:52303071..52304706-chr10:52310411..52312427,2	K562	blood:
3	chr10:52310207..52315512-chr10:52382852..52386021,4	K562	blood:
4	chr10:52180808..52181738-chr10:52309939..52310789,2	K562	blood:
5	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:
6	chr10:52308481..52311283-chr10:52312051..52314747,2	MCF-7	breast:
7	chr10:52308954..52311040-chr10:52345342..52347602,2	K562	blood:
8	chr10:52309255..52311683-chr10:52321787..52323365,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000251950	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10508931	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes]
rs11006166	0.91[ASN][1000 genomes]
rs11006179	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11006183	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11006185	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11006190	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11006191	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11006193	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11006194	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11006197	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11006200	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11006213	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes]
rs11006219	0.82[ASN][1000 genomes]
rs11006229	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11006233	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11006237	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11006238	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1203382	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1203386	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1203390	0.83[ASN][1000 genomes]
rs1203393	0.86[ASN][1000 genomes]
rs1203394	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1203395	0.83[ASN][1000 genomes]
rs1203401	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1203403	0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203405	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203407	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203409	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203410	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203411	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1203418	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1203420	0.80[ASN][1000 genomes]
rs1203421	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1740761	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17496403	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs17496500	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1810576	0.86[ASN][1000 genomes]
rs1916567	0.85[JPT][hapmap]
rs2221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2574985	0.84[JPT][hapmap]
rs2983347	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2983350	0.95[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2983354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2983357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983368	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2983369	0.88[ASN][1000 genomes]
rs2983370	0.83[AMR][1000 genomes]
rs2983371	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3011770	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs3011771	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3011773	0.95[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3011779	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3011780	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3011782	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3011783	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3011786	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3011787	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3011788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3011792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011793	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3011801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7072826	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7921226	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs920136	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52310800	Weak transcription	Gastric	stomach
4	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
5	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:52303200-52312200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:52303400-52310800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:52303400-52312200	Weak transcription	Adipose Nuclei	Adipose
9	chr10:52303400-52314000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:52304000-52312000	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:52304400-52312000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr10:52306000-52312600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:52306000-52312800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:52306000-52312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr10:52306000-52314200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:52306000-52316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:52306000-52319000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
23	chr10:52308800-52312000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:52309200-52312600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:52309400-52310800	Flanking Active TSS	K562	blood
26	chr10:52309400-52311000	Enhancers	Liver	Liver
27	chr10:52309400-52311200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:52309600-52310600	Enhancers	Brain Cingulate Gyrus	brain
29	chr10:52309600-52311000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:52309600-52311000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr10:52309600-52311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr10:52309600-52311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:52309600-52311400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:52309600-52311400	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:52309600-52312000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:52309600-52312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:52309600-52312200	Enhancers	Brain Hippocampus Middle	brain
38	chr10:52309600-52316400	Enhancers	Brain Substantia Nigra	brain
39	chr10:52309800-52310600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:52309800-52310600	Enhancers	Fetal Intestine Large	intestine
41	chr10:52309800-52310600	Enhancers	Ovary	ovary
42	chr10:52309800-52310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:52309800-52311000	Enhancers	Fetal Intestine Small	intestine
44	chr10:52309800-52311200	Enhancers	Small Intestine	intestine
45	chr10:52309800-52311800	Weak transcription	NHDF-Ad	bronchial
46	chr10:52309800-52312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr10:52310000-52310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:52310000-52310600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr10:52310000-52310600	Enhancers	HepG2	liver
50	chr10:52310000-52311000	Enhancers	H9 Cell Line	embryonic stem cell

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