Variant report

Variant	rs4150597
Chromosome Location	chr11:18362393-18362394
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	POLR2A	chr11:18362321-18362476	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:18362076-18362735	PFSK-1	brain:	n/a	n/a
3	MAFK	chr11:18362296-18362546	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:18362063-18362603	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18340850..18343289-chr11:18360894..18362433,2	K562	blood:
2	chr11:18362164..18364564-chr11:18417285..18419232,2	MCF-7	breast:

Variant related genes	Relation type
GTF2H1	TF binding region
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2124373	1.00[EUR][1000 genomes]
rs4150553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150592	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150647	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150677	1.00[EUR][1000 genomes]
rs750948	0.86[EUR][1000 genomes]

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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18346800-18372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18346800-18382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18347000-18372400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:18347400-18366800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:18347400-18371200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:18347800-18368200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:18348000-18371200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:18348400-18365800	Strong transcription	Osteobl	bone
13	chr11:18350400-18371200	Strong transcription	Dnd41	blood
14	chr11:18350400-18372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:18350400-18372000	Strong transcription	Liver	Liver
16	chr11:18350600-18371600	Strong transcription	Fetal Intestine Large	intestine
17	chr11:18350800-18371200	Strong transcription	Fetal Thymus	thymus
18	chr11:18350800-18371800	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:18350800-18372200	Strong transcription	Placenta	Placenta
20	chr11:18351000-18368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:18351200-18368200	Strong transcription	NH-A	brain
22	chr11:18351200-18373600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:18351200-18387000	Weak transcription	Stomach Mucosa	stomach
24	chr11:18351600-18362400	Weak transcription	Fetal Heart	heart
25	chr11:18351600-18368200	Strong transcription	NHEK	skin
26	chr11:18351600-18371200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:18351600-18371800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:18352000-18366000	Strong transcription	Fetal Brain Female	brain
29	chr11:18352000-18368400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:18352200-18363200	Strong transcription	HepG2	liver
31	chr11:18352400-18371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:18353200-18372200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:18353400-18363400	Strong transcription	A549	lung
35	chr11:18353800-18366000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:18353800-18368200	Strong transcription	Fetal Lung	lung
37	chr11:18353800-18368800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:18353800-18369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:18353800-18372000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:18354000-18363000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:18354000-18364000	Strong transcription	HUVEC	blood vessel
42	chr11:18354000-18370600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:18354000-18371800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:18354000-18372200	Strong transcription	Adipose Nuclei	Adipose
45	chr11:18354200-18366800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18354200-18368400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:18354200-18370600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:18354400-18363800	Strong transcription	NHLF	lung
49	chr11:18354400-18370000	Strong transcription	Brain Anterior Caudate	brain
50	chr11:18354400-18371400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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