Variant report

Variant	rs4150577
Chromosome Location	chr11:18356765-18356766
allele	C/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	chr11:18356718-18357613	K562	blood:	n/a	n/a
2	POLR2A	chr11:18356648-18356782	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18354275..18358202-chr11:18415922..18417787,4	K562	blood:
2	chr11:18354275..18357110-chr11:18415922..18417548,3	K562	blood:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16935076	1.00[CHD][hapmap]
rs3100768	1.00[MEX][hapmap]
rs4150555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4150596	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4150649	1.00[ASN][1000 genomes]
rs56902201	1.00[ASN][1000 genomes]
rs73434669	1.00[AMR][1000 genomes]
rs8018	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr11:18346400-18357000	Weak transcription	Esophagus	oesophagus
4	chr11:18346400-18358400	Weak transcription	Right Ventricle	heart
5	chr11:18346400-18358600	Weak transcription	Fetal Brain Male	brain
6	chr11:18346800-18372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18346800-18382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:18347000-18372400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:18347400-18366800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr11:18347400-18371200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:18347800-18368200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:18348000-18371200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:18348400-18365800	Strong transcription	Osteobl	bone
16	chr11:18349600-18357400	Weak transcription	Small Intestine	intestine
17	chr11:18350400-18371200	Strong transcription	Dnd41	blood
18	chr11:18350400-18372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:18350400-18372000	Strong transcription	Liver	Liver
20	chr11:18350600-18371600	Strong transcription	Fetal Intestine Large	intestine
21	chr11:18350800-18361800	Strong transcription	Lung	lung
22	chr11:18350800-18371200	Strong transcription	Fetal Thymus	thymus
23	chr11:18350800-18371800	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:18350800-18372200	Strong transcription	Placenta	Placenta
25	chr11:18351000-18368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:18351200-18357000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:18351200-18357000	Weak transcription	Spleen	Spleen
28	chr11:18351200-18368200	Strong transcription	NH-A	brain
29	chr11:18351200-18373600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:18351200-18387000	Weak transcription	Stomach Mucosa	stomach
31	chr11:18351600-18362400	Weak transcription	Fetal Heart	heart
32	chr11:18351600-18368200	Strong transcription	NHEK	skin
33	chr11:18351600-18371200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:18351600-18371800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:18352000-18359800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:18352000-18362000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:18352000-18366000	Strong transcription	Fetal Brain Female	brain
38	chr11:18352000-18368400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:18352200-18357600	Strong transcription	K562	blood
40	chr11:18352200-18363200	Strong transcription	HepG2	liver
41	chr11:18352400-18371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:18353200-18359200	Strong transcription	Brain Germinal Matrix	brain
44	chr11:18353200-18372200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:18353400-18363400	Strong transcription	A549	lung
46	chr11:18353600-18361600	Strong transcription	NHDF-Ad	bronchial
47	chr11:18353800-18361000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:18353800-18366000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr11:18353800-18368200	Strong transcription	Fetal Lung	lung
50	chr11:18353800-18368800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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