Variant report

Variant	rs201237663
Chromosome Location	chr2:233740732-233740733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:233740440-233740834	HepG2	liver:	n/a	n/a
2	MAX	chr2:233740383-233740834	A549	lung:	n/a	n/a
3	POLR2A	chr2:233740380-233740769	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:233740065-233741988	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:233740311-233740810	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr2:233740384-233740803	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:233740401-233740824	A549	lung:	n/a	n/a
8	TCF12	chr2:233740389-233740814	A549	lung:	n/a	n/a
9	POLR2A	chr2:233740438-233740750	HepG2	liver:	n/a	n/a
10	MAX	chr2:233740369-233740846	A549	lung:	n/a	n/a
11	POLR2A	chr2:233740370-233742177	HepG2	liver:	n/a	n/a
12	CHD2	chr2:233740646-233740754	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:233740324-233740864	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr2:233740523-233741665	MCF-7	breast:	n/a	n/a
15	RAD21	chr2:233740184-233740746	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:233740305-233740814	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr2:233740272-233740762	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPD	chr2:233740315-233740838	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:233740398-233740838	A549	lung:	n/a	n/a
20	BACH1	chr2:233740653-233741530	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr2:233740242-233740750	MCF-7	breast:	n/a	n/a
22	RAD21	chr2:233740318-233740800	HepG2	liver:	n/a	n/a
23	TAF1	chr2:233740376-233740828	HepG2	liver:	n/a	n/a
24	HEY1	chr2:233740209-233740740	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:233740374-233740837	A549	lung:	n/a	n/a
26	POLR2A	chr2:233740143-233742085	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:233735463-233740850	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:233737594-233750472	HepG2	liver:	n/a	n/a
29	CTCF	chr2:233740098-233740864	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr2:233739950-233740745	HepG2	liver:	n/a	n/a
31	HEY1	chr2:233740002-233740801	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:
2	chr2:233739500..233741658-chr2:234118418..234121019,2	MCF-7	breast:
3	chr2:233738643..233740986-chr2:234158854..234161597,2	MCF-7	breast:
4	chr2:233739591..233745527-chr2:233747956..233752237,8	MCF-7	breast:
5	chr2:233739669..233741368-chr2:233754744..233756796,2	MCF-7	breast:
6	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:
7	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000085978	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3395649	chr2:233739733-233742581	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233726400-233740800	Weak transcription	HSMM	muscle
2	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
3	chr2:233738800-233741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:233740000-233740800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:233740000-233740800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:233740000-233741000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr2:233740000-233741000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:233740000-233742000	Bivalent Enhancer	Placenta	Placenta
9	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
10	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:233740200-233740800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr2:233740200-233740800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr2:233740200-233741000	Enhancers	Primary B cells from cord blood	blood
15	chr2:233740200-233741000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:233740200-233741000	Bivalent Enhancer	Left Ventricle	heart
17	chr2:233740200-233741600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr2:233740200-233742000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr2:233740200-233742200	Enhancers	Fetal Brain Male	brain
20	chr2:233740200-233742400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr2:233740400-233740800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:233740400-233740800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:233740400-233740800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:233740400-233740800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr2:233740400-233740800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:233740400-233740800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:233740400-233740800	Flanking Active TSS	Liver	Liver
34	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr2:233740400-233740800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr2:233740400-233740800	Flanking Active TSS	Psoas Muscle	Psoas
38	chr2:233740400-233740800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:233740400-233740800	Enhancers	HMEC	breast
40	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr2:233740400-233740800	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr2:233740400-233741000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:233740400-233741000	Enhancers	Lung	lung
44	chr2:233740400-233741000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr2:233740400-233741000	Bivalent/Poised TSS	Thymus	Thymus
46	chr2:233740400-233741400	Bivalent/Poised TSS	Small Intestine	intestine
47	chr2:233740400-233741600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr2:233740400-233741800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr2:233740400-233741800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr2:233740400-233741800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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