Variant report

Variant	rs75220124
Chromosome Location	chr11:46144297-46144298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:46139355-46144956	SK-N-SH	brain:	n/a	n/a
2	GATA1	chr11:46144063-46144852	PBDE	blood:	n/a	n/a
3	GATA3	chr11:46143877-46144935	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:46142091-46144380	PFSK-1	brain:	n/a	n/a
5	MAZ	chr11:46140638-46144398	IMR90	lung:	n/a	chr11:46143904-46143914 chr11:46140676-46140685
6	TCF12	chr11:46142041-46144374	A549	lung:	n/a	chr11:46142888-46142898
7	CTCF	chr11:46144240-46144390	HMF	breast:	n/a	n/a
8	POLR2A	chr11:46142156-46144332	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:46142167-46144309	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr11:46142130-46144316	PFSK-1	brain:	n/a	n/a
11	SIN3AK20	chr11:46142276-46144308	MCF-7	breast:	n/a	n/a
12	MAZ	chr11:46140975-46144302	GM12878	blood:	n/a	chr11:46143904-46143914
13	ZNF384	chr11:46144240-46144462	GM12878	blood:	n/a	n/a
14	ZNF384	chr11:46144111-46144525	K562	blood:	n/a	n/a
15	REST	chr11:46141978-46144501	H1-neurons	neurons:	n/a	chr11:46144486-46144500 chr11:46143702-46143712
16	CTCF	chr11:46144220-46144370	AG04450	lung:	n/a	n/a
17	GATA3	chr11:46144222-46144400	SH-SY5Y	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
2	chr11:46143224..46145220-chr11:46317344..46319023,2	K562	blood:
3	chr11:46143580..46145236-chr11:46369479..46372129,2	MCF-7	breast:
4	chr11:46125754..46127349-chr11:46143825..46145810,2	MCF-7	breast:
5	chr11:46142872..46144744-chr11:46382813..46385236,2	MCF-7	breast:
6	chr11:46143507..46145451-chr11:46333298..46335406,2	K562	blood:
7	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
8	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
9	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
10	chr11:46092605..46094562-chr11:46143473..46145813,3	K562	blood:
11	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
12	chr11:46143681..46146343-chr11:46159365..46161019,2	K562	blood:
13	chr11:45942020..45943576-chr11:46141975..46144467,2	MCF-7	breast:
14	chr11:45986176..45988319-chr11:46143475..46145056,2	MCF-7	breast:
15	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
16	chr11:45867179..45868974-chr11:46142893..46144558,2	K562	blood:

No data

Variant related genes	Relation type
PHF21A	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3386885	chr11:46140826-46145624	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
2	esv3407307	chr11:46142401-46144949	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46138800-46144600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:46138800-46144800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:46139000-46144400	Active TSS	GM12878-XiMat	blood
4	chr11:46139400-46144600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:46139600-46144400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:46139600-46145000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:46139800-46144600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:46139800-46144600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:46139800-46144600	Active TSS	K562	blood
10	chr11:46140200-46144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:46140200-46144400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:46140200-46144400	Active TSS	NHLF	lung
13	chr11:46140200-46144600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46140200-46144600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:46140200-46144600	Active TSS	Brain Germinal Matrix	brain
16	chr11:46140400-46144400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:46140400-46144400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:46140400-46144400	Active TSS	Brain Angular Gyrus	brain
19	chr11:46140400-46144400	Active TSS	Fetal Kidney	kidney
20	chr11:46140400-46144400	Active TSS	Psoas Muscle	Psoas
21	chr11:46140400-46144400	Active TSS	Stomach Smooth Muscle	stomach
22	chr11:46140400-46144400	Active TSS	HSMMtube	muscle
23	chr11:46140400-46144600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:46140400-46144600	Active TSS	A549	lung
25	chr11:46140400-46144800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:46140400-46144800	Active TSS	Right Ventricle	heart
27	chr11:46140600-46144400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:46140600-46144400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:46140600-46144400	Active TSS	Brain Substantia Nigra	brain
30	chr11:46140600-46144400	Active TSS	Colon Smooth Muscle	Colon
31	chr11:46140600-46144400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:46140600-46144600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:46140600-46144600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:46140600-46144600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:46140600-46144600	Active TSS	NHDF-Ad	bronchial
36	chr11:46140600-46144800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:46140600-46144800	Active TSS	Fetal Brain Female	brain
38	chr11:46140600-46145000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:46140800-46144400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:46140800-46144400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:46140800-46144400	Active TSS	Aorta	Aorta
42	chr11:46140800-46144400	Active TSS	Brain Cingulate Gyrus	brain
43	chr11:46140800-46144400	Active TSS	Fetal Muscle Trunk	muscle
44	chr11:46140800-46144800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:46140800-46144800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:46140800-46144800	Active TSS	Fetal Lung	lung
47	chr11:46141000-46144400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:46141000-46144400	Active TSS	Brain Hippocampus Middle	brain
49	chr11:46141000-46144400	Active TSS	Duodenum Mucosa	Duodenum
50	chr11:46141000-46144400	Active TSS	Fetal Intestine Large	intestine

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