Variant report

Variant	rs538962538
Chromosome Location	chr11:9111768-9111769
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	MXI1	chr11:9111003-9111780	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:9110693-9111955	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:9111722-9111802	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:9111146-9111777	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9110779..9112949-chr14:50359771..50361759,2	MCF-7	breast:
2	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
3	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
4	chr11:9109535..9113708-chr11:9115640..9120311,8	MCF-7	breast:

Variant related genes	Relation type
KRT8P41	TF binding region
ENSG00000165527	Chromatin interaction
ENSG00000213538	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv3404280	chr11:9111401-9114249	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9088200-9112400	Weak transcription	HSMM	muscle
2	chr11:9099400-9112200	Weak transcription	Fetal Heart	heart
3	chr11:9103400-9112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:9109800-9112400	Weak transcription	Right Atrium	heart
5	chr11:9110400-9111800	Enhancers	Adipose Nuclei	Adipose
6	chr11:9110400-9112200	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr11:9110600-9112000	Enhancers	Gastric	stomach
8	chr11:9110600-9112200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:9110800-9112200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:9110800-9112200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:9110800-9112400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:9110800-9112600	Enhancers	Lung	lung
13	chr11:9110800-9112600	Enhancers	Spleen	Spleen
14	chr11:9111000-9112200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr11:9111000-9112200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr11:9111200-9111800	Enhancers	Brain Substantia Nigra	brain
17	chr11:9111200-9111800	Bivalent Enhancer	Fetal Brain Female	brain
18	chr11:9111200-9112000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:9111200-9112200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:9111200-9112200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr11:9111200-9112200	Enhancers	Fetal Lung	lung
22	chr11:9111200-9112400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:9111200-9112400	Enhancers	HMEC	breast
24	chr11:9111400-9111800	Flanking Active TSS	Pancreas	Pancrea
25	chr11:9111400-9111800	Bivalent Enhancer	NHEK	skin
26	chr11:9111400-9112000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr11:9111400-9113400	Weak transcription	HSMMtube	muscle
28	chr11:9111400-9113800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:9111600-9111800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:9111600-9111800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
31	chr11:9111600-9111800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr11:9111600-9111800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr11:9111600-9111800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr11:9111600-9111800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr11:9111600-9111800	Enhancers	Colonic Mucosa	Colon
36	chr11:9111600-9111800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr11:9111600-9111800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:9111600-9112000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:9111600-9112000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr11:9111600-9112000	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:9111600-9112200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:9111600-9112400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9111600-9112400	Weak transcription	Psoas Muscle	Psoas
44	chr11:9111600-9113400	Active TSS	Rectal Smooth Muscle	rectum

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