Variant report

Variant	rs11771167
Chromosome Location	chr7:99759255-99759256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99758106..99763245-chr7:99767736..99770623,4	K562	blood:
2	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
3	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:
4	chr7:99759206..99760844-chr7:99773976..99776568,2	MCF-7	breast:
5	chr7:99758919..99761962-chr7:99764565..99766487,3	K562	blood:
6	chr7:99754767..99758198-chr7:99759049..99763228,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197093	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000166508	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10231604	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764584	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918352	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1918353	0.94[EUR][1000 genomes]
rs2272337	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405440	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35042434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736590	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779047	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800951	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823646	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785392	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7787294	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7787492	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv971181	chr7:99757433-99769748	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11771167	AP4M1	cis	Artery Tibial	GTEx
rs11771167	ZKSCAN1	cis	multi-tissue	Pritchard
rs11771167	TAF6	Cis_1M	lymphoblastoid	RTeQTL
rs11771167	AP4M1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99756600-99760400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99756600-99764200	Weak transcription	Spleen	Spleen
3	chr7:99756800-99760600	Weak transcription	Colonic Mucosa	Colon
4	chr7:99756800-99760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:99756800-99760800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:99756800-99764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:99756800-99765200	Weak transcription	Right Atrium	heart
8	chr7:99756800-99765400	Weak transcription	Pancreas	Pancrea
9	chr7:99757000-99759400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:99757000-99759800	Weak transcription	Fetal Intestine Large	intestine
11	chr7:99757000-99760400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:99757000-99760400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:99757000-99760400	Weak transcription	NHEK	skin
14	chr7:99757000-99760600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:99757000-99760600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:99757000-99760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:99757000-99760600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:99757000-99760600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:99757000-99760600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:99757000-99760600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:99757000-99760600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:99757000-99760600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:99757000-99760600	Weak transcription	Stomach Mucosa	stomach
24	chr7:99757000-99760600	Weak transcription	A549	lung
25	chr7:99757000-99760600	Weak transcription	GM12878-XiMat	blood
26	chr7:99757000-99761000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:99757000-99763800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:99757000-99763800	Weak transcription	Fetal Brain Female	brain
29	chr7:99757000-99764000	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:99757000-99764000	Weak transcription	Fetal Lung	lung
31	chr7:99757000-99764600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:99757000-99764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:99757000-99765000	Weak transcription	HSMM	muscle
34	chr7:99757000-99765400	Weak transcription	HSMMtube	muscle
35	chr7:99757200-99759600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:99757200-99759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:99757200-99759800	Weak transcription	Primary T cells from cord blood	blood
38	chr7:99757200-99760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:99757200-99760400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:99757200-99760400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:99757200-99760400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:99757200-99760400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:99757200-99760400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:99757200-99760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:99757200-99760400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:99757200-99760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:99757200-99760400	Weak transcription	Hela-S3	cervix
48	chr7:99757200-99760600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:99757200-99760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:99757200-99760600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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