Variant report

Variant	rs577751911
Chromosome Location	chr2:172018124-172018125
allele	A/C
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	NFIC	chr2:172017556-172018536	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:172016840-172018486	K562	blood:	n/a	n/a
3	GATA3	chr2:172016623-172018221	A549	lung:	n/a	n/a
4	FOXM1	chr2:172017547-172018129	GM12878	blood:	n/a	n/a
5	MXI1	chr2:172017740-172018199	K562	blood:	n/a	chr2:172017743-172017752
6	NFIC	chr2:172017652-172018337	HepG2	liver:	n/a	n/a
7	TBP	chr2:172015372-172018559	K562	blood:	n/a	n/a
8	MXI1	chr2:172015314-172018623	IMR90	lung:	n/a	chr2:172017743-172017752
9	MAFK	chr2:172017774-172018600	K562	blood:	n/a	n/a
10	RCOR1	chr2:172016726-172018205	IMR90	lung:	n/a	n/a
11	MXI1	chr2:172016875-172018404	GM12878	blood:	n/a	chr2:172017743-172017752
12	POLR2A	chr2:172016842-172018333	MCF10A-Er-Src	breast:	n/a	n/a
13	RUNX3	chr2:172016853-172018153	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:172016883-172018691	PBDE	blood:	n/a	n/a
15	MXI1	chr2:172014546-172018757	SK-N-SH	brain:	n/a	chr2:172017743-172017752
16	POLR2A	chr2:172015344-172018745	GM12891	blood:	n/a	n/a
17	CUX1	chr2:172017813-172018214	K562	blood:	n/a	n/a
18	ZMIZ1	chr2:172015789-172018591	K562	blood:	n/a	n/a
19	EP300	chr2:172017655-172018557	GM12878	blood:	n/a	chr2:172017867-172017881 chr2:172018479-172018488
20	ARID3A	chr2:172017723-172018185	HepG2	liver:	n/a	n/a
21	STAT3	chr2:172018005-172018324	MCF10A-Er-Src	breast:	n/a	n/a
22	MAZ	chr2:172016035-172018200	HepG2	liver:	n/a	n/a
23	ARID3A	chr2:172017730-172018767	K562	blood:	n/a	n/a
24	MTA3	chr2:172017661-172018186	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:172015795-172018376	GM12892	blood:	n/a	n/a
26	CTCF	chr2:172017199-172018221	K562	blood:	n/a	n/a
27	POLR2A	chr2:172015548-172018570	GM12892	blood:	n/a	n/a
28	TBL1XR1	chr2:172016989-172018698	K562	blood:	n/a	n/a
29	MAZ	chr2:172015881-172018480	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:172015844-172018164	HL-60	blood:	n/a	n/a
31	REST	chr2:172015124-172018202	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr2:172014307-172018563	GM12878	blood:	n/a	n/a
33	MYC	chr2:172018049-172018393	MCF10A-Er-Src	breast:	n/a	n/a
34	IRF1	chr2:172017687-172018166	K562	blood:	n/a	chr2:172017868-172017882 chr2:172018066-172018076 chr2:172018063-172018080 chr2:172018066-172018080 chr2:172018064-172018077
35	STAT5A	chr2:172017638-172018551	GM12878	blood:	n/a	n/a
36	CEBPB	chr2:172017832-172018151	K562	blood:	n/a	n/a
37	RAD21	chr2:172015178-172018641	SK-N-SH	brain:	n/a	chr2:172015947-172015966 chr2:172017537-172017551 chr2:172016565-172016578 chr2:172016396-172016410
38	PML	chr2:172017497-172018539	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:172016038-172018360	GM18951	blood:	n/a	n/a
40	MAX	chr2:172015336-172018149	A549	lung:	n/a	n/a
41	MBD4	chr2:172017556-172018131	HepG2	liver:	n/a	n/a
42	ATF2	chr2:172017619-172018193	GM12878	blood:	n/a	n/a
43	PML	chr2:172017564-172018344	K562	blood:	n/a	n/a
44	POLR2A	chr2:172015855-172018613	GM19099	blood:	n/a	n/a
45	JUND	chr2:172016834-172018634	K562	blood:	n/a	chr2:172017784-172017795
46	POLR2A	chr2:172015540-172018549	GM18505	blood:	n/a	n/a
47	TEAD4	chr2:172017552-172018828	K562	blood:	n/a	n/a
48	TEAD4	chr2:172017646-172018175	HepG2	liver:	n/a	n/a
49	MYBL2	chr2:172016813-172018164	HepG2	liver:	n/a	n/a
50	TBP	chr2:172017667-172018229	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172016551..172018471-chr6:20402143..20404906,2	K562	blood:
2	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
3	chr2:172016272..172018929-chr2:172086731..172089635,2	MCF-7	breast:
4	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
5	chr2:172001492..172003805-chr2:172016771..172018907,2	MCF-7	breast:
6	chr2:172016800..172018820-chr2:172378965..172381042,2	K562	blood:
7	chr1:115053337..115055398-chr2:172016775..172018686,2	MCF-7	breast:
8	chr2:171785349..171787069-chr2:172015224..172018585,4	MCF-7	breast:
9	chr2:172016279..172018303-chr2:172948918..172950727,3	MCF-7	breast:
10	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
11	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
12	chr2:172002500..172008778-chr2:172012564..172018500,9	MCF-7	breast:
13	chr2:172017458..172020071-chr2:172021150..172023264,2	MCF-7	breast:
14	chr2:171909667..171912073-chr2:172017809..172019890,2	K562	blood:

Variant related genes	Relation type
TLK1	TF binding region
ENSG00000071967	Chromatin interaction
ENSG00000238567	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000198586	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	esv3420180	chr2:172015931-172018479	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	esv3355452	chr2:172016331-172018879	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3367407	chr2:172016656-172018654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172013800-172018200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:172013800-172018200	Active TSS	GM12878-XiMat	blood
3	chr2:172014000-172018200	Active TSS	K562	blood
4	chr2:172014000-172018800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:172014200-172018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:172014400-172018200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:172014400-172018200	Active TSS	HSMMtube	muscle
8	chr2:172014600-172018400	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:172014600-172018600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:172014600-172018600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:172014600-172018600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:172014600-172018600	Active TSS	HMEC	breast
13	chr2:172014800-172018200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:172014800-172018400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:172014800-172018400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:172014800-172018400	Active TSS	HSMM	muscle
17	chr2:172015000-172018200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:172015000-172018200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:172015000-172018200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:172015000-172018200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:172015000-172018200	Active TSS	Fetal Kidney	kidney
22	chr2:172015000-172018200	Active TSS	Hela-S3	cervix
23	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:172015000-172018400	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:172015000-172018400	Active TSS	Colon Smooth Muscle	Colon
27	chr2:172015000-172018400	Active TSS	Fetal Brain Male	brain
28	chr2:172015000-172018400	Active TSS	NHLF	lung
29	chr2:172015200-172018200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:172015200-172018200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:172015200-172018200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172015200-172018200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:172015200-172018200	Active TSS	Placenta	Placenta
34	chr2:172015200-172018200	Active TSS	Fetal Stomach	stomach
35	chr2:172015200-172018200	Active TSS	A549	lung
36	chr2:172015200-172018400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:172015200-172018400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:172015200-172018400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr2:172015200-172018400	Active TSS	Fetal Thymus	thymus
40	chr2:172015200-172018400	Active TSS	NHDF-Ad	bronchial
41	chr2:172015200-172018600	Active TSS	Fetal Intestine Small	intestine
42	chr2:172015400-172018200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:172015400-172018200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:172015400-172018200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:172015400-172018200	Active TSS	Brain Hippocampus Middle	brain
46	chr2:172015400-172018400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:172015400-172018400	Active TSS	Brain Angular Gyrus	brain
48	chr2:172015400-172018400	Active TSS	Colonic Mucosa	Colon
49	chr2:172015400-172018400	Active TSS	Fetal Muscle Trunk	muscle
50	chr2:172015400-172018400	Active TSS	Psoas Muscle	Psoas

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