Variant report

Variant	rs199650546
Chromosome Location	chr11:73101909-73101910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73101462-73102479	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:73101264-73102593	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:73098540-73102525	A549	lung:	n/a	n/a
5	POLR2A	chr11:73100930-73101970	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73101407-73101936	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:73100205-73103316	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:73101794-73101934	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73101757-73102104	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:73101731-73102007	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72900219..72902837-chr11:73100123..73101971,2	MCF-7	breast:
2	chr11:73075632..73078396-chr11:73100810..73102397,2	MCF-7	breast:
3	chr11:73101451..73103302-chr11:73587436..73589979,2	MCF-7	breast:
4	chr11:73017324..73020653-chr11:73098598..73101937,4	MCF-7	breast:
5	chr11:73098600..73102285-chr11:73102322..73106479,4	MCF-7	breast:
6	chr11:73099755..73102272-chr11:73109128..73112969,3	K562	blood:
7	chr11:73044977..73046880-chr11:73100107..73101964,2	K562	blood:

No data

Variant related genes	Relation type
RELT	TF binding region
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3375921	chr11:73101854-73104652	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:73095000-73103400	Weak transcription	Gastric	stomach
3	chr11:73095200-73116200	Weak transcription	Liver	Liver
4	chr11:73095400-73103000	Weak transcription	NHLF	lung
5	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:73096600-73104400	Weak transcription	Fetal Brain Male	brain
7	chr11:73097000-73106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:73097400-73103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:73097400-73103600	Weak transcription	HepG2	liver
11	chr11:73097400-73103600	Weak transcription	Osteobl	bone
12	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:73097600-73104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
17	chr11:73097800-73104000	Weak transcription	Brain Germinal Matrix	brain
18	chr11:73098000-73102200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:73098000-73104200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:73098600-73104600	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:73098800-73104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:73098800-73105200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
26	chr11:73099000-73104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:73099200-73102000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:73099200-73103000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:73099200-73106600	Strong transcription	Fetal Intestine Small	intestine
30	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:73099400-73102600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:73099400-73102600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:73099400-73104800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:73099400-73109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:73099600-73103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:73099600-73103400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:73099600-73104200	Weak transcription	K562	blood
42	chr11:73099600-73105400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
44	chr11:73099800-73102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73099800-73103600	Weak transcription	HUVEC	blood vessel
46	chr11:73099800-73104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:73100000-73102000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:73100000-73102200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:73100000-73104800	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea

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