Variant report

Variant	rs7939948
Chromosome Location	chr11:36311014-36311015
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	MAFK	chr11:36310654-36311575	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:36310727-36311146	U87	brain:	n/a	n/a
3	ELK1	chr11:36310784-36311163	GM12878	blood:	n/a	n/a
4	MAZ	chr11:36310807-36311445	HepG2	liver:	n/a	chr11:36311001-36311014 chr11:36310972-36310981 chr11:36311003-36311012 chr11:36311002-36311013 chr11:36311003-36311012
5	POLR2A	chr11:36310798-36311100	A549	lung:	n/a	n/a
6	POLR2A	chr11:36310562-36311196	GM12892	blood:	n/a	n/a
7	USF1	chr11:36310702-36311238	GM12878	blood:	n/a	chr11:36311001-36311012 chr11:36310971-36310982 chr11:36311029-36311045
8	FOS	chr11:36310852-36311172	MCF10A-Er-Src	breast:	n/a	n/a
9	SIN3AK20	chr11:36310743-36311148	PFSK-1	brain:	n/a	n/a
10	SIN3AK20	chr11:36310520-36311456	MCF-7	breast:	n/a	n/a
11	USF1	chr11:36310472-36311374	A549	lung:	n/a	chr11:36311001-36311012 chr11:36310971-36310982 chr11:36311029-36311045
12	ELK1	chr11:36310620-36311185	Hela-S3	cervix:	n/a	n/a
13	NANOG	chr11:36310830-36311123	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZMIZ1	chr11:36310755-36311196	K562	blood:	n/a	n/a
15	POLR2A	chr11:36310711-36311129	GM12878	blood:	n/a	n/a
16	ZC3H11A	chr11:36310467-36311448	K562	blood:	n/a	n/a
17	POLR2A	chr11:36310681-36311118	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr11:36310657-36311237	PFSK-1	brain:	n/a	n/a
19	TAF1	chr11:36310712-36311177	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr11:36310738-36311158	PFSK-1	brain:	n/a	n/a
21	TCF3	chr11:36310736-36311135	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:36310342-36311246	HL-60	blood:	n/a	n/a
23	ZNF143	chr11:36310736-36311322	GM12878	blood:	n/a	chr11:36310986-36311004 chr11:36311031-36311049
24	TCF12	chr11:36310553-36311305	A549	lung:	n/a	chr11:36311071-36311078
25	POLR2A	chr11:36310714-36311186	GM12878	blood:	n/a	n/a
26	ATF3	chr11:36310711-36311296	A549	lung:	n/a	chr11:36310992-36311012 chr11:36310972-36310981
27	RELA	chr11:36310674-36311218	GM15510	blood:	n/a	n/a
28	TCF12	chr11:36310765-36311155	GM12878	blood:	n/a	chr11:36311071-36311078
29	USF2	chr11:36310757-36311208	HepG2	liver:	n/a	chr11:36310970-36310981 chr11:36311001-36311012 chr11:36311029-36311045
30	ELF1	chr11:36310766-36311247	K562	blood:	n/a	n/a
31	POLR2A	chr11:36310737-36311224	MCF-7	breast:	n/a	n/a
32	EP300	chr11:36310800-36311220	K562	blood:	n/a	chr11:36311084-36311100
33	ETS1	chr11:36310598-36311269	K562	blood:	n/a	chr11:36311038-36311051
34	BCLAF1	chr11:36310754-36311243	GM12878	blood:	n/a	n/a
35	SMARCC2	chr11:36310495-36311432	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr11:36310563-36311418	HCT-116	colon:	n/a	n/a
37	JUND	chr11:36310506-36311243	K562	blood:	n/a	n/a
38	ELF1	chr11:36310755-36311226	K562	blood:	n/a	n/a
39	MAX	chr11:36310759-36311248	GM12878	blood:	n/a	chr11:36311001-36311014 chr11:36310972-36310981 chr11:36311003-36311012 chr11:36311002-36311013 chr11:36311003-36311012
40	MXI1	chr11:36310783-36311373	H1-hESC	embryonic stem cell:	n/a	chr11:36311002-36311011
41	REST	chr11:36310814-36311114	SK-N-SH	brain:	n/a	chr11:36311035-36311045
42	RELA	chr11:36310691-36311273	GM19099	blood:	n/a	n/a
43	USF1	chr11:36310602-36311229	A549	lung:	n/a	chr11:36311001-36311012 chr11:36310971-36310982 chr11:36311029-36311045
44	YY1	chr11:36310627-36311323	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr11:36310727-36311240	GM15510	blood:	n/a	n/a
46	PAX5	chr11:36310798-36311218	GM12878	blood:	n/a	n/a
47	SIN3AK20	chr11:36310768-36311101	SK-N-SH	brain:	n/a	n/a
48	MAX	chr11:36310712-36311292	H1-hESC	embryonic stem cell:	n/a	chr11:36311001-36311014 chr11:36310972-36310981 chr11:36311003-36311012 chr11:36311002-36311013 chr11:36311003-36311012
49	FOS	chr11:36310781-36311189	GM12878	blood:	n/a	n/a
50	SREBP1	chr11:36310539-36311757	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:36310968-36311018	NT2-D1	testis:	n/a
2	chr11:36310999-36311049	Hela-S3	cervix:	n/a
3	chr11:36311007-36311057	HAEpiC	amniotic membrane:	n/a
4	chr11:36310968-36311018	GM19239	blood:	n/a
5	chr11:36311007-36311057	NHDF-neo	bronchial:	n/a
6	chr11:36310968-36311018	NHDF-neo	bronchial:	n/a
7	chr11:36311007-36311057	CMK	blood:	n/a
8	chr11:36310999-36311049	AG04449	skin:	fetal
9	chr11:36310999-36311049	K562	blood:	n/a
10	chr11:36310968-36311018	RPTEC	kidney:	n/a
11	chr11:36311007-36311057	BE2_C	brain:	n/a
12	chr11:36310999-36311049	HAEpiC	amniotic membrane:	n/a
13	chr11:36310968-36311018	GM12891	blood:	n/a
14	chr11:36310968-36311018	A549	lung:	n/a
15	chr11:36310968-36311018	Hepatocyte	liver:	n/a
16	chr11:36311007-36311057	GM12878	blood:	n/a
17	chr11:36310999-36311049	MCF10A-Er-Src	breast:	n/a
18	chr11:36311007-36311057	HCT-116	colon:	n/a
19	chr11:36310999-36311049	Caco-2	colon:	n/a
20	chr11:36310999-36311049	GM19239	blood:	n/a
21	chr11:36310968-36311018	AG09319	gingival:	n/a
22	chr11:36310968-36311018	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:36310968-36311018	ProgFib	skin:	n/a
24	chr11:36311007-36311057	H1-hESC	embryonic stem cell:	embryo
25	chr11:36310968-36311018	GM12878	blood:	n/a
26	chr11:36311007-36311057	A549	lung:	n/a
27	chr11:36310968-36311018	AG04450	lung:	fetal
28	chr11:36311007-36311057	PFSK-1	brain:	n/a
29	chr11:36310968-36311018	BE2_C	brain:	n/a
30	chr11:36311007-36311057	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:36310999-36311049	SK-N-SH_RA	brain:	n/a
32	chr11:36311007-36311057	AG10803	skin:	n/a
33	chr11:36310999-36311049	HepG2	liver:	n/a
34	chr11:36311007-36311057	NB4	blood:	n/a
35	chr11:36311007-36311057	AoSMC	blood vessel:	n/a
36	chr11:36311007-36311057	AG04449	skin:	fetal
37	chr11:36311007-36311057	GM06990	blood:	n/a
38	chr11:36310999-36311049	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:36310968-36311018	HAEpiC	amniotic membrane:	n/a
40	chr11:36311007-36311057	GM12891	blood:	n/a
41	chr11:36310968-36311018	SK-N-SH_RA	brain:	n/a
42	chr11:36311007-36311057	SKMC	muscle:	n/a
43	chr11:36310968-36311018	HCT-116	colon:	n/a
44	chr11:36310999-36311049	AG04450	lung:	fetal
45	chr11:36310968-36311018	HL-60	blood:	n/a
46	chr11:36310968-36311018	BJ	skin:	n/a
47	chr11:36310968-36311018	NH-A	brain:	n/a
48	chr11:36311007-36311057	MCF-7	breast:	n/a
49	chr11:36310999-36311049	GM06990	blood:	n/a
50	chr11:36310968-36311018	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36309810..36312786-chr11:36530434..36531939,2	MCF-7	breast:

Variant related genes	Relation type
COMMD9	TF binding region
COMMD9	CpG island
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2305169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104737	0.85[CEU][hapmap];0.89[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9888212	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9888213	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9888261	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36309600-36311400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:36309600-36311400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:36309600-36311400	Active TSS	A549	lung
4	chr11:36309600-36311600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36309800-36311200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:36309800-36311200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:36309800-36311200	Active TSS	NHLF	lung
8	chr11:36309800-36311600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:36309800-36311600	Active TSS	GM12878-XiMat	blood
10	chr11:36310000-36311200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:36310000-36311200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:36310000-36311200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:36310000-36311200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:36310000-36311200	Active TSS	Hela-S3	cervix
15	chr11:36310000-36311200	Active TSS	HMEC	breast
16	chr11:36310000-36311200	Active TSS	NHDF-Ad	bronchial
17	chr11:36310000-36311200	Active TSS	Osteobl	bone
18	chr11:36310000-36311400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:36310000-36311400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:36310000-36311400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:36310000-36311400	Active TSS	Brain Angular Gyrus	brain
22	chr11:36310000-36311400	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:36310000-36311400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:36310000-36311400	Active TSS	Gastric	stomach
25	chr11:36310000-36311400	Active TSS	Psoas Muscle	Psoas
26	chr11:36310000-36311400	Active TSS	HSMM	muscle
27	chr11:36310000-36311600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:36310000-36311600	Active TSS	Fetal Intestine Large	intestine
29	chr11:36310000-36311600	Active TSS	Fetal Intestine Small	intestine
30	chr11:36310200-36311200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:36310200-36311200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:36310200-36311200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:36310200-36311200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:36310200-36311200	Active TSS	Esophagus	oesophagus
35	chr11:36310200-36311200	Active TSS	Left Ventricle	heart
36	chr11:36310200-36311200	Active TSS	K562	blood
37	chr11:36310200-36311200	Active TSS	NHEK	skin
38	chr11:36310200-36311400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:36310200-36311400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:36310200-36311400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:36310200-36311400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr11:36310200-36311400	Active TSS	Brain Anterior Caudate	brain
43	chr11:36310200-36311400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:36310200-36311400	Active TSS	Brain Substantia Nigra	brain
45	chr11:36310200-36311400	Active TSS	Ovary	ovary
46	chr11:36310200-36311600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:36310200-36311600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:36310200-36311600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr11:36310200-36311600	Active TSS	Aorta	Aorta
50	chr11:36310200-36311600	Active TSS	Colonic Mucosa	Colon

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