Variant report

Variant	rs569313058
Chromosome Location	chr11:73072498-73072499
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	CTCF	chr11:73071293-73072788	A549	lung:	n/a	chr11:73071697-73071706 chr11:73072248-73072256 chr11:73071691-73071709 chr11:73071686-73071707 chr11:73071693-73071706
2	USF1	chr11:73072454-73072764	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73071635..73074523-chr11:73081652..73084521,2	MCF-7	breast:
2	chr11:73064557..73071332-chr11:73071606..73076683,10	K562	blood:
3	chr11:73071618..73073385-chr11:73077416..73079992,2	K562	blood:
4	chr11:73067211..73073171-chr11:73086403..73091347,7	K562	blood:
5	chr11:73065144..73069347-chr11:73069926..73075014,6	MCF-7	breast:
6	chr11:73069945..73072738-chr11:73094072..73096401,3	K562	blood:
7	chr11:73018905..73020845-chr11:73070622..73074766,3	MCF-7	breast:
8	chr11:73070623..73072623-chr11:73089095..73090847,2	MCF-7	breast:
9	chr11:73002085..73004189-chr11:73070534..73073198,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000266866	Chromatin interaction
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	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
5	esv3376212	chr11:73071829-73074677	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73075400	Weak transcription	A549	lung
2	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
3	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
7	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
10	chr11:73060200-73077000	Weak transcription	GM12878-XiMat	blood
11	chr11:73062200-73075000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:73062600-73073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:73062600-73077000	Weak transcription	Fetal Brain Male	brain
15	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
17	chr11:73062600-73087400	Weak transcription	Liver	Liver
18	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
20	chr11:73063600-73077200	Strong transcription	Ovary	ovary
21	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
24	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:73064000-73076800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:73064200-73077000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:73064600-73073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:73065800-73072600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73065800-73077600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr11:73066400-73073600	Genic enhancers	Placenta	Placenta
33	chr11:73066400-73077200	Strong transcription	Right Ventricle	heart
34	chr11:73066400-73077600	Strong transcription	Gastric	stomach
35	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:73066600-73073400	Strong transcription	Pancreas	Pancrea
37	chr11:73066600-73078000	Strong transcription	Lung	lung
38	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:73066800-73077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
41	chr11:73067200-73073800	Weak transcription	Colonic Mucosa	Colon
42	chr11:73067600-73077400	Weak transcription	Thymus	Thymus
43	chr11:73068000-73073600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
45	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
46	chr11:73069800-73072600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:73069800-73076600	Strong transcription	Spleen	Spleen
48	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
49	chr11:73070400-73075200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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