Variant report

Variant	rs114288260
Chromosome Location	chr2:55495838-55495839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55495499-55496934	PFSK-1	brain:	n/a	n/a
2	GABPA	chr2:55495609-55496835	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr2:55495762-55496695	NB4	blood:	n/a	n/a
4	NFIC	chr2:55495566-55496917	GM12878	blood:	n/a	n/a
5	MBD4	chr2:55495384-55496719	HepG2	liver:	n/a	n/a
6	CTCF	chr2:55495760-55495910	AG10803	skin:	n/a	n/a
7	CHD1	chr2:55495812-55496751	GM12878	blood:	n/a	chr2:55496076-55496086
8	PML	chr2:55495813-55496714	K562	blood:	n/a	n/a
9	HEY1	chr2:55495577-55496683	K562	blood:	n/a	n/a
10	POLR2A	chr2:55495560-55496760	PANC-1	pancreas:	n/a	n/a
11	MXI1	chr2:55495646-55496655	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr2:55495532-55496909	MCF-7	breast:	n/a	n/a
13	USF1	chr2:55495629-55496655	A549	lung:	n/a	n/a
14	POLR2A	chr2:55495627-55496713	Hela-S3	cervix:	n/a	n/a
15	SIN3A	chr2:55495689-55496603	H1-hESC	embryonic stem cell:	n/a	chr2:55496539-55496552 chr2:55496093-55496104
16	MBD4	chr2:55495400-55496786	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:55495522-55497897	HepG2	liver:	n/a	n/a
18	UBTF	chr2:55495574-55497012	K562	blood:	n/a	n/a
19	MAX	chr2:55495837-55496666	MCF-7	breast:	n/a	n/a
20	RUNX3	chr2:55495827-55496707	GM12878	blood:	n/a	chr2:55496480-55496497
21	MYC	chr2:55495397-55497273	A549	lung:	n/a	n/a
22	HCFC1	chr2:55495787-55496705	K562	blood:	n/a	n/a
23	POLR2A	chr2:55495723-55496724	HUVEC	blood vessel:	n/a	n/a
24	EP300	chr2:55495823-55496602	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:55495639-55497273	Raji	blood:	n/a	n/a
26	GABPA	chr2:55495833-55496758	K562	blood:	n/a	n/a
27	GABPA	chr2:55495386-55497058	A549	lung:	n/a	n/a
28	SIX5	chr2:55495524-55496790	A549	lung:	n/a	n/a
29	TEAD4	chr2:55495584-55496769	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:55495551-55496864	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr2:55495700-55495850	HPAF	blood vessel:	n/a	n/a
32	POLR2A	chr2:55495629-55496689	GM12878	blood:	n/a	n/a
33	MYBL2	chr2:55495437-55497054	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:55495599-55497066	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:55495740-55495890	SAEC	small airway:	n/a	n/a
36	MAX	chr2:55495624-55496861	HCT-116	colon:	n/a	n/a
37	REST	chr2:55495688-55496721	HL-60	blood:	n/a	chr2:55496060-55496073 chr2:55496539-55496552
38	EP300	chr2:55495810-55496717	A549	lung:	n/a	n/a
39	POLR2A	chr2:55495696-55497121	PFSK-1	brain:	n/a	n/a
40	JUND	chr2:55495761-55496948	K562	blood:	n/a	chr2:55496869-55496878
41	ZNF143	chr2:55495817-55496596	Hela-S3	cervix:	n/a	chr2:55496036-55496055 chr2:55496391-55496409
42	HEY1	chr2:55495590-55496679	HepG2	liver:	n/a	n/a
43	BCL3	chr2:55495510-55496662	A549	lung:	n/a	chr2:55496096-55496109
44	TAF1	chr2:55495815-55496870	ECC-1	luminal epithelium:	n/a	n/a
45	FOSL2	chr2:55495784-55496729	A549	lung:	n/a	n/a
46	MYC	chr2:55495686-55496613	K562	blood:	n/a	n/a
47	ETS1	chr2:55495739-55496724	A549	lung:	n/a	chr2:55496210-55496219 chr2:55496407-55496416 chr2:55496406-55496419 chr2:55496407-55496416
48	CTCF	chr2:55495720-55495870	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:55495760-55495910	Caco-2	colon:	n/a	n/a
50	FOSL2	chr2:55495775-55496699	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
2	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
3	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
4	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
5	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
6	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
7	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
8	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
9	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:
10	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
11	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
12	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:

No data

Variant related genes	Relation type
MTIF2	TF binding region
ENSG00000085760	Chromatin interaction
ENSG00000272606	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr2:55494800-55497000	Active TSS	GM12878-XiMat	blood
2	chr2:55495200-55497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:55495200-55497000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:55495200-55497200	Active TSS	Psoas Muscle	Psoas
5	chr2:55495400-55496000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:55495400-55496000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:55495400-55496000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr2:55495400-55496000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:55495400-55496000	Flanking Active TSS	Liver	Liver
10	chr2:55495400-55496000	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr2:55495400-55496000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr2:55495400-55496000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr2:55495400-55496000	Flanking Active TSS	Fetal Brain Female	brain
14	chr2:55495400-55496000	Flanking Active TSS	Dnd41	blood
15	chr2:55495400-55496000	Flanking Active TSS	HSMMtube	muscle
16	chr2:55495400-55496000	Flanking Active TSS	HUVEC	blood vessel
17	chr2:55495400-55496000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:55495400-55496000	Flanking Active TSS	NH-A	brain
19	chr2:55495400-55496000	Flanking Active TSS	Osteobl	bone
20	chr2:55495400-55496200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:55495400-55496200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:55495400-55496400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:55495400-55496400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr2:55495400-55496400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:55495400-55496800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:55495400-55496800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:55495400-55496800	Active TSS	Aorta	Aorta
28	chr2:55495400-55496800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:55495400-55496800	Active TSS	Colonic Mucosa	Colon
30	chr2:55495400-55496800	Active TSS	Colon Smooth Muscle	Colon
31	chr2:55495400-55496800	Active TSS	Fetal Heart	heart
32	chr2:55495400-55496800	Active TSS	Left Ventricle	heart
33	chr2:55495400-55496800	Active TSS	Rectal Smooth Muscle	rectum
34	chr2:55495400-55496800	Active TSS	K562	blood
35	chr2:55495400-55496800	Active TSS	NHDF-Ad	bronchial
36	chr2:55495400-55497000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:55495400-55497000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:55495400-55497000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:55495400-55497000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:55495400-55497000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:55495400-55497000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:55495400-55497000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:55495400-55497000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr2:55495400-55497000	Active TSS	Right Atrium	heart
45	chr2:55495400-55497000	Active TSS	Right Ventricle	heart
46	chr2:55495400-55497000	Active TSS	HSMM	muscle
47	chr2:55495400-55497200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:55495400-55497200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:55495400-55497200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:55495400-55497200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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