Variant report

Variant	rs608585
Chromosome Location	chr11:75268704-75268705
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	chr11:75268348-75271161	IMR90	lung:	n/a	chr11:75270176-75270183 chr11:75270177-75270193 chr11:75268906-75268916 chr11:75269359-75269368 chr11:75269445-75269455
2	MXI1	chr11:75268331-75269845	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75109345..75111138-chr11:75267506..75271056,3	K562	blood:
2	chr11:75109385..75112508-chr11:75266595..75269626,3	K562	blood:
3	chr11:75267704..75270313-chr11:75526283..75528540,2	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12417071	1.00[YRI][hapmap]
rs12789498	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs527048	1.00[YRI][hapmap]
rs640264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75263800-75268800	Weak transcription	Fetal Brain Female	brain
2	chr11:75263800-75272600	Enhancers	Fetal Muscle Trunk	muscle
3	chr11:75263800-75272600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:75265600-75270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:75266000-75268800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:75266000-75269600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:75266000-75270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:75266200-75268800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:75266200-75269000	Enhancers	Adipose Nuclei	Adipose
10	chr11:75266200-75269600	Weak transcription	Fetal Kidney	kidney
11	chr11:75266200-75272800	Enhancers	Fetal Stomach	stomach
12	chr11:75266400-75268800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:75266400-75268800	Weak transcription	Spleen	Spleen
14	chr11:75266400-75269000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:75266400-75269000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:75266400-75269000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:75266400-75269600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:75266400-75269800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:75266400-75269800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:75266600-75268800	Weak transcription	Fetal Intestine Large	intestine
21	chr11:75266600-75269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75266600-75269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:75266600-75269000	Weak transcription	Esophagus	oesophagus
24	chr11:75266600-75269600	Weak transcription	Brain Anterior Caudate	brain
25	chr11:75266800-75269200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:75266800-75269600	Weak transcription	Brain Angular Gyrus	brain
27	chr11:75266800-75269600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:75266800-75269600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:75266800-75269600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:75267400-75272800	Enhancers	Fetal Heart	heart
31	chr11:75267800-75268800	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:75267800-75269000	Enhancers	NHDF-Ad	bronchial
33	chr11:75267800-75272400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:75268000-75268800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:75268000-75269000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:75268000-75269000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:75268000-75269400	Enhancers	K562	blood
38	chr11:75268000-75269600	Enhancers	Fetal Lung	lung
39	chr11:75268000-75269600	Enhancers	NH-A	brain
40	chr11:75268000-75269800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr11:75268000-75270000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:75268000-75270000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:75268000-75271200	Enhancers	Ovary	ovary
44	chr11:75268000-75272600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:75268000-75272800	Enhancers	Placenta	Placenta
46	chr11:75268000-75272800	Enhancers	Fetal Thymus	thymus
47	chr11:75268200-75269000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:75268200-75269400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:75268200-75269400	Enhancers	HSMMtube	muscle
50	chr11:75268200-75269800	Enhancers	HSMM	muscle

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