Variant report

Variant	rs4150555
Chromosome Location	chr11:18353743-18353744
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	chr11:18353534-18354395	K562	blood:	n/a	n/a
2	WRNIP1	chr11:18353685-18353885	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GTF2H1	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4150577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4150596	0.95[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]

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	chr11:18346200-18355200	Weak transcription	Colonic Mucosa	Colon
4	chr11:18346400-18354600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:18346400-18355200	Weak transcription	Gastric	stomach
6	chr11:18346400-18355200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:18346400-18357000	Weak transcription	Esophagus	oesophagus
8	chr11:18346400-18358400	Weak transcription	Right Ventricle	heart
9	chr11:18346400-18358600	Weak transcription	Fetal Brain Male	brain
10	chr11:18346600-18355200	Weak transcription	Fetal Kidney	kidney
11	chr11:18346600-18355200	Weak transcription	Ovary	ovary
12	chr11:18346800-18354400	Weak transcription	NHLF	lung
13	chr11:18346800-18354600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:18346800-18354600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:18346800-18354600	Weak transcription	HSMMtube	muscle
16	chr11:18346800-18355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:18346800-18355000	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:18346800-18355000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:18346800-18355200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:18346800-18372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:18346800-18382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:18347000-18372400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:18347400-18366800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:18347400-18371200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:18347800-18368200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:18348000-18371200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:18348200-18355800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:18348400-18365800	Strong transcription	Osteobl	bone
31	chr11:18348800-18354000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:18349400-18354000	Weak transcription	HUVEC	blood vessel
33	chr11:18349400-18354600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:18349400-18355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:18349600-18357400	Weak transcription	Small Intestine	intestine
36	chr11:18350400-18355000	Weak transcription	Psoas Muscle	Psoas
37	chr11:18350400-18371200	Strong transcription	Dnd41	blood
38	chr11:18350400-18372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:18350400-18372000	Strong transcription	Liver	Liver
40	chr11:18350600-18371600	Strong transcription	Fetal Intestine Large	intestine
41	chr11:18350800-18361800	Strong transcription	Lung	lung
42	chr11:18350800-18371200	Strong transcription	Fetal Thymus	thymus
43	chr11:18350800-18371800	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:18350800-18372200	Strong transcription	Placenta	Placenta
45	chr11:18351000-18354800	Genic enhancers	Primary B cells from cord blood	blood
46	chr11:18351000-18355000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:18351000-18368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:18351200-18353800	Weak transcription	Fetal Lung	lung
49	chr11:18351200-18354600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:18351200-18357000	Weak transcription	H9 Cell Line	embryonic stem cell

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