Variant report

Variant	rs534921221
Chromosome Location	chr11:46144113-46144114
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	MXI1	chr11:46139355-46144956	SK-N-SH	brain:	n/a	n/a
2	HEY1	chr11:46143894-46144230	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46142820-46144204	PANC-1	pancreas:	n/a	n/a
4	RFX5	chr11:46142307-46144129	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:46143283-46144145	A549	lung:	n/a	chr11:46143904-46143914
6	GATA1	chr11:46144063-46144852	PBDE	blood:	n/a	n/a
7	GATA3	chr11:46143877-46144935	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:46143320-46144165	HL-60	blood:	n/a	n/a
9	BRCA1	chr11:46143978-46144218	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:46142091-46144380	PFSK-1	brain:	n/a	n/a
11	SIN3A	chr11:46142105-46144205	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:46142173-46144137	GM12878	blood:	n/a	n/a
13	FOXA2	chr11:46143760-46144237	A549	lung:	n/a	n/a
14	MAX	chr11:46142071-46144198	Hela-S3	cervix:	n/a	chr11:46143904-46143914
15	RCOR1	chr11:46142159-46144114	IMR90	lung:	n/a	n/a
16	MAZ	chr11:46140638-46144398	IMR90	lung:	n/a	chr11:46143904-46143914 chr11:46140676-46140685
17	TCF12	chr11:46142041-46144374	A549	lung:	n/a	chr11:46142888-46142898
18	POLR2A	chr11:46140739-46144176	Raji	blood:	n/a	n/a
19	POLR2A	chr11:46142295-46144136	GM19193	blood:	n/a	n/a
20	POLR2A	chr11:46142156-46144332	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr11:46142167-46144309	H1-neurons	neurons:	n/a	n/a
22	CEBPB	chr11:46142319-46144272	Hela-S3	cervix:	n/a	chr11:46143931-46143943
23	SIN3AK20	chr11:46142669-46144135	MCF-7	breast:	n/a	n/a
24	PBX3	chr11:46142442-46144270	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:46142286-46144136	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:46143743-46144126	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:46142130-46144316	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr11:46142322-46144187	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:46142245-46144216	MCF-7	breast:	n/a	n/a
30	RCOR1	chr11:46142347-46144192	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr11:46142276-46144308	MCF-7	breast:	n/a	n/a
32	PRDM1	chr11:46144073-46144249	Hela-S3	cervix:	n/a	chr11:46144182-46144191 chr11:46144177-46144192 chr11:46144178-46144192
33	MAX	chr11:46143269-46144204	A549	lung:	n/a	chr11:46143904-46143914
34	POLR2A	chr11:46142347-46144142	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr11:46140975-46144302	GM12878	blood:	n/a	chr11:46143904-46143914
36	CHD2	chr11:46142047-46144237	Hela-S3	cervix:	n/a	chr11:46143922-46143932 chr11:46143897-46143907
37	POLR2A	chr11:46143230-46144157	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:46142790-46144125	Hela-S3	cervix:	n/a	n/a
39	TBP	chr11:46143821-46144271	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:46144055-46144210	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:46142183-46144218	ProgFib	skin:	n/a	n/a
42	POLR2A	chr11:46143778-46144249	SK-N-SH	brain:	n/a	n/a
43	GTF2F1	chr11:46143811-46144219	Hela-S3	cervix:	n/a	n/a
44	FOXA2	chr11:46143649-46144228	A549	lung:	n/a	n/a
45	POLR2A	chr11:46140754-46144176	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr11:46140686-46144209	K562	blood:	n/a	chr11:46143904-46143914
47	MAZ	chr11:46142119-46144276	Hela-S3	cervix:	n/a	chr11:46143904-46143914
48	POLR2A	chr11:46143318-46144279	SK-N-MC	brain:	n/a	n/a
49	CHD2	chr11:46142297-46144249	H1-hESC	embryonic stem cell:	n/a	chr11:46143922-46143932 chr11:46143897-46143907
50	ZNF384	chr11:46144111-46144525	K562	blood:	n/a	n/a

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:

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

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

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	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	esv3429154	chr11:46141751-46144174	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a
3	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46138200-46144200	Active TSS	Ovary	ovary
2	chr11:46138800-46144600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:46138800-46144800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:46139000-46144400	Active TSS	GM12878-XiMat	blood
5	chr11:46139200-46144200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:46139400-46144600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:46139600-46144400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:46139600-46145000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:46139800-46144600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:46139800-46144600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:46139800-46144600	Active TSS	K562	blood
12	chr11:46140200-46144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:46140200-46144400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:46140200-46144400	Active TSS	NHLF	lung
15	chr11:46140200-46144600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:46140200-46144600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:46140200-46144600	Active TSS	Brain Germinal Matrix	brain
18	chr11:46140400-46144200	Active TSS	Colonic Mucosa	Colon
19	chr11:46140400-46144400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:46140400-46144400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:46140400-46144400	Active TSS	Brain Angular Gyrus	brain
22	chr11:46140400-46144400	Active TSS	Fetal Kidney	kidney
23	chr11:46140400-46144400	Active TSS	Psoas Muscle	Psoas
24	chr11:46140400-46144400	Active TSS	Stomach Smooth Muscle	stomach
25	chr11:46140400-46144400	Active TSS	HSMMtube	muscle
26	chr11:46140400-46144600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:46140400-46144600	Active TSS	A549	lung
28	chr11:46140400-46144800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:46140400-46144800	Active TSS	Right Ventricle	heart
30	chr11:46140600-46144200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:46140600-46144200	Active TSS	Left Ventricle	heart
32	chr11:46140600-46144200	Active TSS	Small Intestine	intestine
33	chr11:46140600-46144400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:46140600-46144400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:46140600-46144400	Active TSS	Brain Substantia Nigra	brain
36	chr11:46140600-46144400	Active TSS	Colon Smooth Muscle	Colon
37	chr11:46140600-46144400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:46140600-46144600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:46140600-46144600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:46140600-46144600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr11:46140600-46144600	Active TSS	NHDF-Ad	bronchial
42	chr11:46140600-46144800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:46140600-46144800	Active TSS	Fetal Brain Female	brain
44	chr11:46140600-46145000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:46140800-46144200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:46140800-46144400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:46140800-46144400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:46140800-46144400	Active TSS	Aorta	Aorta
49	chr11:46140800-46144400	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:46140800-46144400	Active TSS	Fetal Muscle Trunk	muscle

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