Variant report

Variant	rs11763928
Chromosome Location	chr7:66770705-66770706
allele	A/G
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	SPI1	chr7:66770483-66770705	GM12878	blood:	n/a	n/a
2	EBF1	chr7:66770524-66770852	GM12878	blood:	n/a	chr7:66770731-66770742
3	EBF1	chr7:66770513-66770917	GM12878	blood:	n/a	chr7:66770731-66770742
4	POLR2A	chr7:66770472-66770754	K562	blood:	n/a	n/a
5	EBF1	chr7:66770491-66770940	GM12878	blood:	n/a	chr7:66770731-66770742

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66766528..66769516-chr7:66770098..66773304,3	K562	blood:

Variant related genes	Relation type
PMS2P4	TF binding region
STAG3L4	TF binding region
ENSG00000106610	Chromatin interaction
ENSG00000067601	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17180957	0.96[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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv970872	chr7:66742783-66776118	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats 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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11763928	STAG3L4	cis	Adipose Subcutaneous	GTEx
rs11763928	FLJ13195	Cis_1M	lymphoblastoid	RTeQTL
rs11763928	STAG3L4	cis	Stomach	GTEx
rs11763928	STAG3L4	cis	Artery Tibial	GTEx
rs11763928	STAG3L4	cis	lung	GTEx
rs11763928	STAG3L4	cis	Esophagus Muscularis	GTEx
rs11763928	STAG3L4	cis	Thyroid	GTEx
rs11763928	STAG3L4	cis	Artery Aorta	GTEx
rs11763928	STAG3L4	cis	Whole Blood	GTEx
rs11763928	STAG3L4	cis	Nerve Tibial	GTEx
rs11763928	STAG3L4	cis	Muscle Skeletal	GTEx
rs11763928	STAG3L4	cis	Skin Sun Exposed Lower leg	GTEx
rs11763928	STAG3L4	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66767800-66780800	Weak transcription	Fetal Brain Male	brain
2	chr7:66768000-66773600	Weak transcription	Stomach Mucosa	stomach
3	chr7:66768200-66774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:66768400-66771200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:66768400-66771200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:66768400-66771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:66768400-66771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:66768400-66772000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:66768400-66772200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:66768400-66772200	Weak transcription	Spleen	Spleen
11	chr7:66768400-66772400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:66768400-66772400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:66768400-66772400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:66768400-66772400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:66768400-66772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:66768400-66772600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:66768400-66772600	Weak transcription	Aorta	Aorta
18	chr7:66768400-66772600	Weak transcription	Brain Angular Gyrus	brain
19	chr7:66768400-66772600	Weak transcription	Colonic Mucosa	Colon
20	chr7:66768400-66772600	Weak transcription	Fetal Lung	lung
21	chr7:66768400-66772600	Weak transcription	Gastric	stomach
22	chr7:66768400-66773200	Weak transcription	Fetal Brain Female	brain
23	chr7:66768400-66773200	Weak transcription	NHDF-Ad	bronchial
24	chr7:66768400-66773200	Weak transcription	Osteobl	bone
25	chr7:66768400-66773400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:66768400-66773400	Weak transcription	Ovary	ovary
27	chr7:66768400-66773400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:66768400-66773600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:66768400-66773800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:66768400-66774000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:66768400-66774000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:66768400-66774600	Weak transcription	Small Intestine	intestine
33	chr7:66768400-66776600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:66768600-66771400	Weak transcription	Placenta	Placenta
35	chr7:66768600-66771600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:66768600-66771600	Weak transcription	Left Ventricle	heart
37	chr7:66768600-66772200	Weak transcription	Esophagus	oesophagus
38	chr7:66768600-66772200	Weak transcription	Thymus	Thymus
39	chr7:66768600-66772400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:66768600-66772400	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:66768600-66772600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:66768600-66773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:66768600-66774000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:66768600-66782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:66768800-66771400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:66768800-66771400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:66768800-66773200	Weak transcription	Psoas Muscle	Psoas
48	chr7:66768800-66773200	Weak transcription	HSMMtube	muscle
49	chr7:66768800-66775200	Strong transcription	Fetal Intestine Small	intestine
50	chr7:66768800-66783200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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