Variant report

Variant	rs185498603
Chromosome Location	chr11:71933468-71933469
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	MAZ	chr11:71933467-71937004	K562	blood:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
2	HCFC1	chr11:71932747-71937190	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr11:71933273-71935391	K562	blood:	n/a	n/a
4	EP300	chr11:71933417-71934762	K562	blood:	n/a	chr11:71934716-71934732 chr11:71934691-71934707 chr11:71934439-71934455

No.	Distal block	Cell Line	Cell type
1	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
2	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:
3	chr11:71903106..71905888-chr11:71932566..71934811,2	K562	blood:
4	chr11:71928000..71929697-chr11:71932021..71933671,2	MCF-7	breast:
5	chr11:71929797..71931441-chr11:71932339..71934152,2	MCF-7	breast:
6	chr11:71926160..71927705-chr11:71931885..71934510,2	MCF-7	breast:
7	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
8	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
9	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
10	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000165457	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000162129	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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3356829	chr11:71933329-71936177	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3333139	chr11:71933354-71937252	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71928000-71933600	Weak transcription	Pancreas	Pancrea
2	chr11:71929600-71933600	Weak transcription	Colonic Mucosa	Colon
3	chr11:71929800-71933600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:71931600-71933600	Enhancers	Fetal Muscle Leg	muscle
5	chr11:71931600-71933800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:71931800-71933600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:71931800-71933600	Enhancers	Adipose Nuclei	Adipose
8	chr11:71932200-71933600	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:71932200-71933600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:71932200-71933600	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:71932200-71933800	Enhancers	Placenta	Placenta
12	chr11:71932400-71933600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:71932400-71933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:71932400-71933600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:71932400-71934000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:71932400-71934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:71932600-71933600	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:71932600-71933800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:71932600-71933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:71932600-71933800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:71932800-71933600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:71932800-71933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:71932800-71933600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:71932800-71933600	Enhancers	Liver	Liver
25	chr11:71932800-71933600	Enhancers	Brain Substantia Nigra	brain
26	chr11:71932800-71933600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:71932800-71933600	Enhancers	Fetal Lung	lung
28	chr11:71932800-71933800	Enhancers	Fetal Intestine Large	intestine
29	chr11:71932800-71933800	Enhancers	Fetal Stomach	stomach
30	chr11:71932800-71934000	Flanking Active TSS	GM12878-XiMat	blood
31	chr11:71932800-71934200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:71933000-71933600	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:71933000-71933600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:71933000-71933600	Enhancers	Spleen	Spleen
35	chr11:71933000-71933800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:71933000-71933800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:71933000-71933800	Enhancers	Fetal Thymus	thymus
38	chr11:71933200-71933600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:71933200-71933600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr11:71933200-71933600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:71933200-71933600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:71933200-71933600	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:71933200-71933600	Enhancers	Fetal Intestine Small	intestine
44	chr11:71933200-71933600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:71933200-71933600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:71933200-71933800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:71933200-71933800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:71933200-71933800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:71933200-71933800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:71933200-71933800	Enhancers	Esophagus	oesophagus

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