Variant report

Variant	rs3764815
Chromosome Location	chr7:99008969-99008970
allele	A/C
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	POLR2A	chr7:99008485-99009766	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
3	chr7:99008645..99011330-chr7:99036359..99039743,4	K562	blood:
4	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000106246	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1002172	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1004387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10155966	0.90[CHD][hapmap];0.89[JPT][hapmap]
rs10225314	1.00[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs10236149	0.81[ASN][1000 genomes]
rs10243678	0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10255399	0.83[ASN][1000 genomes]
rs10258757	0.90[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10270459	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10270917	0.90[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10464604	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11539770	1.00[EUR][1000 genomes]
rs11762273	0.90[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs13240600	0.83[JPT][hapmap]
rs17161652	1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17161677	1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17161692	0.84[GIH][hapmap]
rs17161698	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17161766	0.92[EUR][1000 genomes]
rs17161768	1.00[EUR][1000 genomes]
rs17161769	1.00[EUR][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	0.92[EUR][1000 genomes]
rs17161780	0.92[EUR][1000 genomes]
rs17161783	0.92[EUR][1000 genomes]
rs1985453	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2057905	0.89[ASN][1000 genomes]
rs2057906	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072181	0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2074652	0.83[JPT][hapmap]
rs2107705	1.00[EUR][1000 genomes]
rs2240385	1.00[CEU][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2269985	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301889	0.84[GIH][hapmap]
rs2404322	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28495024	0.85[ASN][1000 genomes]
rs3800960	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs45492098	1.00[EUR][1000 genomes]
rs45540134	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45622743	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58222677	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60865030	0.92[EUR][1000 genomes]
rs61159815	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes]
rs61543997	1.00[EUR][1000 genomes]
rs6943920	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs72494451	1.00[EUR][1000 genomes]
rs72494452	1.00[EUR][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	1.00[EUR][1000 genomes]
rs940336	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3764815	BUD31	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007400-99010600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:99007600-99010000	Weak transcription	Ovary	ovary
4	chr7:99007600-99015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:99007800-99012000	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:99008000-99009000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:99008000-99009000	Genic enhancers	A549	lung
9	chr7:99008000-99009400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:99008000-99009400	Weak transcription	Stomach Mucosa	stomach
11	chr7:99008000-99009600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:99008000-99011200	Strong transcription	Colonic Mucosa	Colon
13	chr7:99008000-99011400	Strong transcription	Aorta	Aorta
14	chr7:99008000-99011600	Strong transcription	Right Ventricle	heart
15	chr7:99008000-99018400	Strong transcription	Gastric	stomach
16	chr7:99008000-99018400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr7:99008000-99019800	Weak transcription	Right Atrium	heart
18	chr7:99008000-99023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:99008000-99023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:99008000-99023800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:99008000-99023800	Strong transcription	Placenta	Placenta
22	chr7:99008000-99024000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:99008000-99024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:99008000-99024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:99008000-99024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:99008000-99024000	Strong transcription	Spleen	Spleen
27	chr7:99008000-99024200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:99008000-99024200	Strong transcription	Fetal Stomach	stomach
29	chr7:99008000-99026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:99008200-99009000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr7:99008200-99009000	Strong transcription	Small Intestine	intestine
32	chr7:99008200-99009400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:99008200-99009600	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr7:99008200-99010600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:99008200-99011000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr7:99008200-99011200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:99008200-99011400	Strong transcription	HSMM	muscle
38	chr7:99008200-99012400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:99008200-99023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:99008200-99023600	Strong transcription	Fetal Intestine Large	intestine
41	chr7:99008200-99023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:99008200-99023800	Strong transcription	Fetal Brain Female	brain
43	chr7:99008200-99023800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:99008200-99023800	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:99008200-99024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:99008200-99024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:99008200-99024000	Strong transcription	Lung	lung
48	chr7:99008200-99024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:99008400-99009400	Strong transcription	Pancreas	Pancrea
50	chr7:99008400-99010800	Strong transcription	Esophagus	oesophagus

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