Variant report

Variant	rs3771126
Chromosome Location	chr2:10550517-10550518
allele	A/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10544615..10547096-chr2:10548655..10551250,3	K562	blood:
2	chr2:10548741..10551044-chr2:10552688..10554394,2	K562	blood:
3	chr2:10261171..10265935-chr2:10544190..10551018,10	K562	blood:
4	chr2:10440924..10446095-chr2:10544022..10551736,19	MCF-7	breast:
5	chr2:10495772..10497357-chr2:10549432..10551731,2	K562	blood:
6	chr2:10397551..10400374-chr2:10549393..10550991,2	MCF-7	breast:
7	chr2:10418216..10420909-chr2:10547555..10550904,3	K562	blood:
8	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
9	chr2:10266037..10268714-chr2:10547903..10550604,2	K562	blood:
10	chr2:10480270..10481880-chr2:10548259..10550783,2	MCF-7	breast:
11	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
12	chr2:10548229..10551901-chr2:10552572..10557970,6	K562	blood:
13	chr2:10544615..10546165-chr2:10548581..10550648,2	K562	blood:
14	chr2:10436642..10438745-chr2:10547775..10550649,2	K562	blood:
15	chr2:10266037..10269086-chr2:10547903..10550826,4	K562	blood:
16	chr2:10460038..10463230-chr2:10546392..10550535,3	MCF-7	breast:
17	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
18	chr2:10440762..10444214-chr2:10546694..10551810,5	K562	blood:
19	chr2:10546313..10548622-chr2:10549795..10552775,2	K562	blood:
20	chr2:10259324..10265273-chr2:10547206..10552383,9	K562	blood:
21	chr2:10548913..10551031-chr2:10587775..10589671,2	K562	blood:
22	chr2:10328070..10328961-chr2:10549008..10550652,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11694643	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13383055	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs13383253	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs17434886	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2270303	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3755261	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755262	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771120	0.88[CHB][hapmap]
rs3771123	0.98[ASN][1000 genomes]
rs3771135	0.91[ASN][1000 genomes]
rs3771144	0.88[ASN][1000 genomes]
rs3771145	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs3771146	0.86[ASN][1000 genomes]
rs3821197	0.88[CHB][hapmap]
rs3821200	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs55961729	0.93[ASN][1000 genomes]
rs56156675	0.93[ASN][1000 genomes]
rs56382508	0.93[ASN][1000 genomes]
rs62128251	0.88[ASN][1000 genomes]
rs62128252	0.88[ASN][1000 genomes]
rs62128254	0.88[ASN][1000 genomes]
rs62130179	0.88[ASN][1000 genomes]
rs62130183	0.88[ASN][1000 genomes]
rs62130187	0.95[ASN][1000 genomes]
rs62130191	0.93[ASN][1000 genomes]
rs7579181	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599203	0.88[ASN][1000 genomes]
rs7603265	0.98[ASN][1000 genomes]
rs7603352	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs7608670	0.86[CHB][hapmap]
rs9917369	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10533000-10551800	Weak transcription	Ovary	ovary
2	chr2:10541200-10550800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:10545400-10551800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:10545800-10550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:10546200-10550600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10546400-10551400	Enhancers	Fetal Thymus	thymus
7	chr2:10546600-10550600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:10546800-10551400	Genic enhancers	Fetal Intestine Small	intestine
9	chr2:10547000-10551600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr2:10547200-10551600	Enhancers	HSMM	muscle
11	chr2:10547400-10551200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:10547400-10551400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:10547600-10550800	Enhancers	Fetal Intestine Large	intestine
14	chr2:10547600-10551000	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:10547600-10551600	Enhancers	Fetal Lung	lung
16	chr2:10547800-10551600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:10548200-10551000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr2:10548200-10551000	Enhancers	Placenta	Placenta
19	chr2:10548400-10552200	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:10548600-10551200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:10549000-10551400	Enhancers	Fetal Brain Male	brain
22	chr2:10549000-10551600	Enhancers	Brain Germinal Matrix	brain
23	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
24	chr2:10549200-10551200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:10549200-10551400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:10549400-10550800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:10549400-10550800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:10549400-10551200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:10549400-10552000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:10549400-10552200	Weak transcription	Osteobl	bone
31	chr2:10549400-10553000	Weak transcription	HUVEC	blood vessel
32	chr2:10549400-10553600	Weak transcription	NHLF	lung
33	chr2:10549400-10554000	Weak transcription	Right Atrium	heart
34	chr2:10549400-10554000	Weak transcription	NHDF-Ad	bronchial
35	chr2:10549400-10554200	Weak transcription	Aorta	Aorta
36	chr2:10549400-10555000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:10549400-10562200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:10549400-10563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:10549600-10550800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:10549600-10550800	Weak transcription	NH-A	brain
41	chr2:10549600-10551000	Weak transcription	Spleen	Spleen
42	chr2:10549600-10551200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:10549600-10551600	Weak transcription	Gastric	stomach
44	chr2:10549600-10552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:10549600-10552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:10549600-10552000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:10549600-10552200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:10549600-10553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:10549600-10554000	Weak transcription	Left Ventricle	heart
50	chr2:10549600-10554200	Weak transcription	Brain Angular Gyrus	brain

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