Variant report

Variant	rs13402422
Chromosome Location	chr2:208827123-208827124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208824191..208827889-chr2:208829117..208831257,3	K562	blood:
2	chr2:208824191..208827889-chr2:208829117..208831257,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10192065	0.95[JPT][hapmap]
rs10221788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037416	0.94[JPT][hapmap]
rs10497892	0.95[JPT][hapmap]
rs10932217	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11674933	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676872	0.94[JPT][hapmap]
rs11679492	0.95[JPT][hapmap]
rs11687058	0.95[JPT][hapmap]
rs11692908	0.95[JPT][hapmap]
rs13006024	0.90[JPT][hapmap]
rs13025100	0.95[JPT][hapmap]
rs2044971	0.94[JPT][hapmap]
rs2123294	0.89[JPT][hapmap]
rs2362783	0.95[JPT][hapmap]
rs3795911	0.90[JPT][hapmap]
rs3795912	0.89[JPT][hapmap]
rs4021953	0.95[JPT][hapmap]
rs4507086	0.95[JPT][hapmap]
rs4673377	0.95[JPT][hapmap]
rs62190860	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711259	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712527	0.95[JPT][hapmap]
rs6730216	0.84[JPT][hapmap]
rs6733857	0.90[JPT][hapmap]
rs6741366	0.94[JPT][hapmap]
rs7355275	0.89[JPT][hapmap]
rs7570588	0.94[JPT][hapmap]
rs7593972	0.94[JPT][hapmap]
rs7595734	0.94[JPT][hapmap]
rs7595823	0.84[JPT][hapmap]
rs896636	0.95[JPT][hapmap]
rs930746	0.95[JPT][hapmap]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208796000-208835200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:208798800-208834200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:208810400-208827200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:208810400-208833600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:208810400-208841000	Weak transcription	Fetal Lung	lung
6	chr2:208810600-208827200	Weak transcription	Fetal Stomach	stomach
7	chr2:208811200-208835200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:208815400-208835400	Weak transcription	Right Ventricle	heart
9	chr2:208815400-208840800	Weak transcription	Ovary	ovary
10	chr2:208816600-208834000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:208817000-208833000	Weak transcription	Psoas Muscle	Psoas
12	chr2:208817200-208834600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:208819200-208834000	Weak transcription	Stomach Mucosa	stomach
14	chr2:208825200-208841400	Weak transcription	Aorta	Aorta
15	chr2:208825600-208841400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:208826000-208829200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:208826400-208827600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr2:208826400-208827600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr2:208826400-208828000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr2:208826400-208828000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr2:208826400-208828200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr2:208826600-208827200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:208826600-208827600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:208826600-208827800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr2:208826600-208828000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr2:208826600-208828000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:208826600-208828200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:208826600-208828200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr2:208826600-208828200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr2:208826600-208828200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:208826600-208828200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr2:208826600-208828400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:208826600-208841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:208826800-208827200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:208826800-208827200	ZNF genes & repeats	Esophagus	oesophagus
36	chr2:208826800-208827400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:208826800-208827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:208826800-208827400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:208826800-208827400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:208826800-208827400	Strong transcription	Left Ventricle	heart
41	chr2:208826800-208827400	ZNF genes & repeats	Lung	lung
42	chr2:208826800-208827400	ZNF genes & repeats	HepG2	liver
43	chr2:208826800-208827600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr2:208826800-208827600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:208826800-208828200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr2:208826800-208828200	ZNF genes & repeats	Thymus	Thymus
47	chr2:208826800-208828200	ZNF genes & repeats	Dnd41	blood
48	chr2:208826800-208828200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr2:208826800-208840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:208827000-208827200	ZNF genes & repeats	Pancreas	Pancrea

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