Variant report

Variant	rs7111265
Chromosome Location	chr11:75271653-75271654
allele	C/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	MAZ	chr11:75271345-75276013	IMR90	lung:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432 chr11:75273132-75273142 chr11:75272857-75272867

No.	Distal block	Cell Line	Cell type
1	chr11:75270140..75272443-chr11:75298108..75300358,2	K562	blood:
2	chr11:75005825..75008105-chr11:75270179..75271837,2	K562	blood:
3	chr11:75270417..75273210-chr11:75525682..75528337,2	MCF-7	breast:
4	chr11:75244173..75246884-chr11:75270776..75273035,2	K562	blood:
5	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7936052	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75263800-75272600	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:75263800-75272600	Enhancers	Fetal Muscle Leg	muscle
3	chr11:75266200-75272800	Enhancers	Fetal Stomach	stomach
4	chr11:75267400-75272800	Enhancers	Fetal Heart	heart
5	chr11:75267800-75272400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:75268000-75272600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:75268000-75272800	Enhancers	Placenta	Placenta
8	chr11:75268000-75272800	Enhancers	Fetal Thymus	thymus
9	chr11:75268400-75272800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:75268600-75271800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:75268600-75272400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:75268600-75272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:75268800-75272200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:75268800-75272600	Enhancers	Fetal Intestine Large	intestine
15	chr11:75269000-75272400	Enhancers	Colonic Mucosa	Colon
16	chr11:75269000-75272600	Enhancers	Fetal Intestine Small	intestine
17	chr11:75269000-75272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:75269200-75272600	Weak transcription	Thymus	Thymus
19	chr11:75269800-75272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:75270000-75272600	Enhancers	HepG2	liver
21	chr11:75270200-75272000	Weak transcription	HMEC	breast
22	chr11:75270200-75272400	Enhancers	Fetal Lung	lung
23	chr11:75270200-75272600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:75270200-75272600	Enhancers	NHDF-Ad	bronchial
25	chr11:75270400-75272400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:75270400-75272600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:75270600-75272000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:75270600-75272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:75270600-75272400	Weak transcription	Small Intestine	intestine
30	chr11:75270600-75272600	Weak transcription	Pancreas	Pancrea
31	chr11:75270600-75272600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:75270600-75272600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:75270600-75272800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:75270600-75272800	Weak transcription	Esophagus	oesophagus
35	chr11:75270600-75273200	Weak transcription	Gastric	stomach
36	chr11:75270800-75272000	Enhancers	Osteobl	bone
37	chr11:75270800-75272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:75270800-75272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:75270800-75272200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:75270800-75272200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:75270800-75272200	Weak transcription	Spleen	Spleen
42	chr11:75270800-75272200	Weak transcription	NHEK	skin
43	chr11:75270800-75272400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:75270800-75272400	Enhancers	NHLF	lung
45	chr11:75270800-75272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:75270800-75272600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:75270800-75272600	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:75270800-75272600	Weak transcription	Right Atrium	heart
49	chr11:75270800-75272600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:75270800-75272600	Enhancers	HSMM	muscle

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