Variant report

Variant	rs949141
Chromosome Location	chr11:72948926-72948927
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	CHD2	chr11:72948907-72949152	HepG2	liver:	n/a	n/a
2	MAX	chr11:72948727-72949443	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:72948498-72954888	HL-60	blood:	n/a	n/a
4	MAX	chr11:72948900-72949282	HepG2	liver:	n/a	n/a
5	MXI1	chr11:72948898-72949347	HepG2	liver:	n/a	n/a
6	RCOR1	chr11:72948911-72949307	HepG2	liver:	n/a	n/a
7	BHLHE40	chr11:72948914-72949186	GM12878	blood:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
8	POLR2A	chr11:72948515-72954870	HL-60	blood:	n/a	n/a
9	JUND	chr11:72948880-72949300	HepG2	liver:	n/a	n/a
10	USF2	chr11:72948922-72949228	HepG2	liver:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
11	FOXA1	chr11:72948840-72949306	HepG2	liver:	n/a	n/a
12	BHLHE40	chr11:72948728-72949349	HepG2	liver:	n/a	chr11:72949056-72949065 chr11:72949055-72949064 chr11:72949050-72949071 chr11:72949056-72949065
13	FOXA1	chr11:72948898-72949226	HepG2	liver:	n/a	n/a
14	STAT3	chr11:72948884-72949050	MCF10A-Er-Src	breast:	n/a	n/a
15	TBP	chr11:72948886-72949215	HepG2	liver:	n/a	n/a
16	CREB1	chr11:72948703-72949445	HepG2	liver:	n/a	n/a
17	STAT3	chr11:72948883-72949051	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:72948624-72951375	NB4	blood:	n/a	n/a
19	MYBL2	chr11:72948893-72949391	HepG2	liver:	n/a	n/a
20	JUND	chr11:72948864-72949272	HepG2	liver:	n/a	n/a
21	FOSL2	chr11:72948798-72949290	HepG2	liver:	n/a	n/a
22	ARID3A	chr11:72948846-72949143	HepG2	liver:	n/a	n/a
23	JUN	chr11:72948865-72949167	HepG2	liver:	n/a	chr11:72949008-72949021
24	EP300	chr11:72948786-72949307	HepG2	liver:	n/a	n/a
25	ZBTB7A	chr11:72948860-72949172	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:72948799-72949378	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72896002..72897253-chr11:72947609..72949145,18	MCF-7	breast:
2	chr11:72947595..72949559-chr11:72951904..72954092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260401	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1626154	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814728	0.84[CEU][hapmap]
rs949140	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72936400-72953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:72940600-72953400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:72941000-72951000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72941000-72953200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:72941200-72949000	Weak transcription	Right Atrium	heart
6	chr11:72941600-72953200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:72943800-72952200	Strong transcription	Fetal Intestine Small	intestine
8	chr11:72944000-72951600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:72945200-72953400	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:72945400-72949000	Weak transcription	Fetal Stomach	stomach
11	chr11:72946000-72949000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:72946000-72950800	Weak transcription	Pancreas	Pancrea
13	chr11:72946000-72951000	Weak transcription	Gastric	stomach
14	chr11:72946200-72954200	Enhancers	Left Ventricle	heart
15	chr11:72946400-72951000	Weak transcription	Ovary	ovary
16	chr11:72946400-72953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:72946600-72951000	Weak transcription	Fetal Lung	lung
18	chr11:72946600-72951400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:72946600-72953400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:72946600-72953400	Weak transcription	Colonic Mucosa	Colon
21	chr11:72946600-72954400	Enhancers	Right Ventricle	heart
22	chr11:72946800-72950200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:72947000-72949600	Genic enhancers	HMEC	breast
24	chr11:72947200-72950200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:72947200-72952000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:72947200-72953400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:72947400-72949200	Enhancers	Spleen	Spleen
28	chr11:72947400-72949400	Enhancers	HSMMtube	muscle
29	chr11:72947600-72949400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:72947800-72949000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:72947800-72949400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:72947800-72949400	Enhancers	HUVEC	blood vessel
33	chr11:72947800-72949800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:72947800-72950400	Enhancers	HepG2	liver
35	chr11:72947800-72952800	Enhancers	Psoas Muscle	Psoas
36	chr11:72947800-72953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:72947800-72953400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:72948000-72949200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:72948000-72949400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:72948000-72949400	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:72948000-72949600	Enhancers	Fetal Muscle Leg	muscle
42	chr11:72948200-72949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:72948200-72949200	Enhancers	Osteobl	bone
44	chr11:72948200-72949400	Weak transcription	NHEK	skin
45	chr11:72948200-72950000	Weak transcription	Placenta	Placenta
46	chr11:72948200-72950800	Weak transcription	Lung	lung
47	chr11:72948200-72953000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:72948400-72953400	Weak transcription	Liver	Liver
49	chr11:72948600-72949000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:72948600-72949200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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