Variant report

Variant	rs72910144
Chromosome Location	chr11:6238663-6238664
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	chr11:6238581-6238751	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:6238284-6238965	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:6238607..6240234-chr11:6260037..6262905,2	K562	blood:
2	chr11:6233615..6235664-chr11:6238107..6239617,2	K562	blood:
3	chr11:6237044..6239203-chr11:6254087..6256430,3	MCF-7	breast:

Variant related genes	Relation type
FAM160A2	TF binding region
ENSG00000132259	Chromatin interaction
ENSG00000051009	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16909252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61876772	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6223200-6241000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr11:6223800-6245800	Strong transcription	Liver	Liver
3	chr11:6224000-6246000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:6224400-6245800	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:6225200-6246000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr11:6225200-6246000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:6225200-6246000	Strong transcription	Fetal Intestine Large	intestine
8	chr11:6225400-6239200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:6225400-6239800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:6225400-6241000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr11:6225600-6239600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:6225800-6243000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:6225800-6244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:6225800-6246000	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:6226000-6240400	Strong transcription	Adipose Nuclei	Adipose
16	chr11:6226200-6241000	Weak transcription	Right Atrium	heart
17	chr11:6226200-6245800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:6226200-6246000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:6226200-6246000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:6226200-6246600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:6226800-6245800	Strong transcription	Brain Anterior Caudate	brain
22	chr11:6227000-6240600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:6227000-6245600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:6227600-6239200	Weak transcription	Stomach Mucosa	stomach
25	chr11:6227600-6245800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:6228000-6240200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:6228200-6239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:6228200-6240200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:6228200-6245800	Strong transcription	Brain Germinal Matrix	brain
30	chr11:6228600-6240400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:6228600-6246000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:6228800-6246000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:6230200-6240200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:6230200-6245800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:6230400-6240400	Strong transcription	Hela-S3	cervix
36	chr11:6230400-6240800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:6230400-6246000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:6230600-6240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:6230600-6241200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:6230600-6241400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:6230600-6241600	Strong transcription	Fetal Brain Female	brain
42	chr11:6230600-6241800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:6230800-6240000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:6230800-6240400	Strong transcription	Primary T cells from cord blood	blood
45	chr11:6230800-6241000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:6230800-6241400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:6230800-6245600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:6230800-6245600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:6230800-6245800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:6230800-6245800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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