Variant report

Variant	rs2051829
Chromosome Location	chr7:27866231-27866232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr7:27866223-27866250	GM12878	blood:	n/a	n/a
2	EP300	chr7:27864933-27866729	SK-N-SH	brain:	n/a	chr7:27866348-27866358 chr7:27865756-27865770 chr7:27866219-27866228
3	POLR2A	chr7:27866091-27866634	K562	blood:	n/a	n/a
4	GATA3	chr7:27866154-27866377	SH-SY5Y	brain:	n/a	chr7:27866207-27866228 chr7:27866203-27866220
5	POLR2A	chr7:27866120-27866290	GM12891	blood:	n/a	n/a
6	MXI1	chr7:27865555-27866856	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TAX1BP1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11973028	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs17155928	0.85[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap]
rs17611937	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17685046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2237337	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2285930	0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs2391486	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2391489	0.81[CEU][hapmap]
rs34369550	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3944121	0.85[CHD][hapmap]
rs4722732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722733	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722739	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4722742	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4722744	0.85[CEU][hapmap]
rs55714615	0.86[ASN][1000 genomes]
rs56137979	0.88[ASN][1000 genomes]
rs61538692	0.88[ASN][1000 genomes]
rs62449631	0.88[ASN][1000 genomes]
rs6462056	0.82[EUR][1000 genomes]
rs6974060	0.86[ASN][1000 genomes]
rs6978847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757964	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7785305	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7790213	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7796790	0.94[ASN][1000 genomes]
rs7799957	0.80[CHB][hapmap];0.80[CHD][hapmap]
rs7804317	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808062	0.94[ASN][1000 genomes]
rs960293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs960294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9638847	0.88[ASN][1000 genomes]
rs9639563	0.93[GIH][hapmap]
rs9639564	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]

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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2051829	PRR15	cis	parietal	SCAN
rs2051829	CRHR2	cis	parietal	SCAN
rs2051829	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
5	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
6	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
7	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
11	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
12	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:27835200-27878200	Weak transcription	Gastric	stomach
14	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
15	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
18	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
19	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:27848400-27871600	Weak transcription	HMEC	breast
23	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:27848600-27868200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:27848600-27871000	Weak transcription	K562	blood
26	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:27853000-27868800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:27856600-27874000	Weak transcription	Fetal Stomach	stomach
32	chr7:27856800-27867400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:27856800-27868200	Weak transcription	Lung	lung
34	chr7:27856800-27871800	Weak transcription	NH-A	brain
35	chr7:27856800-27873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:27856800-27874000	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:27856800-27874200	Weak transcription	GM12878-XiMat	blood
38	chr7:27857000-27867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:27857200-27875600	Weak transcription	NHEK	skin
40	chr7:27857200-27877800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:27857800-27871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:27858000-27866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:27858000-27868200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
45	chr7:27858400-27871200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:27858400-27873400	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:27858400-27879600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:27858600-27880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:27858800-27879800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:27858800-27880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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