Variant report

Variant	rs191216408
Chromosome Location	chr2:55495644-55495645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

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	NFIC	chr2:55495566-55496917	GM12878	blood:	n/a	n/a
4	MBD4	chr2:55495384-55496719	HepG2	liver:	n/a	n/a
5	MXI1	chr2:55495621-55495648	GM12878	blood:	n/a	n/a
6	HEY1	chr2:55495577-55496683	K562	blood:	n/a	n/a
7	POLR2A	chr2:55495560-55496760	PANC-1	pancreas:	n/a	n/a
8	SIN3AK20	chr2:55495532-55496909	MCF-7	breast:	n/a	n/a
9	USF1	chr2:55495629-55496655	A549	lung:	n/a	n/a
10	POLR2A	chr2:55495627-55496713	Hela-S3	cervix:	n/a	n/a
11	MBD4	chr2:55495400-55496786	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:55495522-55497897	HepG2	liver:	n/a	n/a
13	UBTF	chr2:55495574-55497012	K562	blood:	n/a	n/a
14	EP300	chr2:55495617-55495716	GM12878	blood:	n/a	n/a
15	MYC	chr2:55495397-55497273	A549	lung:	n/a	n/a
16	POLR2A	chr2:55495639-55497273	Raji	blood:	n/a	n/a
17	GABPA	chr2:55495386-55497058	A549	lung:	n/a	n/a
18	SIX5	chr2:55495524-55496790	A549	lung:	n/a	n/a
19	TEAD4	chr2:55495584-55496769	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:55495551-55496864	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:55495629-55496689	GM12878	blood:	n/a	n/a
22	MYBL2	chr2:55495437-55497054	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:55495599-55497066	Hela-S3	cervix:	n/a	n/a
24	MAX	chr2:55495624-55496861	HCT-116	colon:	n/a	n/a
25	HEY1	chr2:55495590-55496679	HepG2	liver:	n/a	n/a
26	BCL3	chr2:55495510-55496662	A549	lung:	n/a	chr2:55496096-55496109
27	GABPA	chr2:55495499-55496733	MCF-7	breast:	n/a	n/a
28	MTA3	chr2:55495584-55496634	GM12878	blood:	n/a	n/a
29	ZNF263	chr2:55495587-55496683	HEK293-T-REx	kidney:	n/a	chr2:55496532-55496541
30	POLR2A	chr2:55495510-55497085	MCF10A-Er-Src	breast:	n/a	n/a
31	REST	chr2:55495584-55496800	A549	lung:	n/a	chr2:55496060-55496073 chr2:55496539-55496552
32	POLR2A	chr2:55495622-55496792	K562	blood:	n/a	n/a
33	POLR2A	chr2:55495447-55496673	GM12892	blood:	n/a	n/a
34	POLR2A	chr2:55495641-55496725	K562	blood:	n/a	n/a
35	POLR2A	chr2:55495610-55496686	Hela-S3	cervix:	n/a	n/a
36	MYC	chr2:55495616-55496729	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:55495603-55496715	K562	blood:	n/a	n/a
38	POLR2A	chr2:55495518-55496801	HepG2	liver:	n/a	n/a
39	MXI1	chr2:55495585-55496692	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:55495545-55495708	K562	blood:	n/a	n/a
41	POLR2A	chr2:55495545-55496792	HL-60	blood:	n/a	n/a
42	MAX	chr2:55495603-55496713	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:55495384-55496972	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr2:55495523-55496715	K562	blood:	n/a	n/a
45	GABPA	chr2:55495600-55496839	SK-N-SH	brain:	n/a	n/a
46	GABPA	chr2:55495561-55496799	HL-60	blood:	n/a	n/a
47	POLR2A	chr2:55495544-55496724	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:55495585-55496696	GM12878	blood:	n/a	n/a
49	SMC3	chr2:55495599-55495843	GM12878	blood:	n/a	n/a
50	MYBL2	chr2:55495610-55497191	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
ENSG00000162997	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000272606	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	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55492600-55495800	Weak transcription	Spleen	Spleen
3	chr2:55494600-55495800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:55494800-55497000	Active TSS	GM12878-XiMat	blood
5	chr2:55495200-55495800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:55495200-55497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:55495200-55497000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55495200-55497200	Active TSS	Psoas Muscle	Psoas
9	chr2:55495400-55495800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:55495400-55495800	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:55495400-55495800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:55495400-55495800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:55495400-55495800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:55495400-55495800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr2:55495400-55495800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr2:55495400-55495800	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr2:55495400-55495800	Flanking Active TSS	Fetal Lung	lung
18	chr2:55495400-55495800	Flanking Active TSS	Fetal Stomach	stomach
19	chr2:55495400-55495800	Flanking Active TSS	Hela-S3	cervix
20	chr2:55495400-55495800	Flanking Active TSS	HMEC	breast
21	chr2:55495400-55495800	Flanking Active TSS	NHEK	skin
22	chr2:55495400-55496000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:55495400-55496000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:55495400-55496000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:55495400-55496000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr2:55495400-55496000	Flanking Active TSS	Liver	Liver
27	chr2:55495400-55496000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr2:55495400-55496000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr2:55495400-55496000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:55495400-55496000	Flanking Active TSS	Fetal Brain Female	brain
31	chr2:55495400-55496000	Flanking Active TSS	Dnd41	blood
32	chr2:55495400-55496000	Flanking Active TSS	HSMMtube	muscle
33	chr2:55495400-55496000	Flanking Active TSS	HUVEC	blood vessel
34	chr2:55495400-55496000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:55495400-55496000	Flanking Active TSS	NH-A	brain
36	chr2:55495400-55496000	Flanking Active TSS	Osteobl	bone
37	chr2:55495400-55496200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:55495400-55496200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:55495400-55496400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:55495400-55496400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:55495400-55496400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:55495400-55496800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:55495400-55496800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:55495400-55496800	Active TSS	Aorta	Aorta
45	chr2:55495400-55496800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:55495400-55496800	Active TSS	Colonic Mucosa	Colon
47	chr2:55495400-55496800	Active TSS	Colon Smooth Muscle	Colon
48	chr2:55495400-55496800	Active TSS	Fetal Heart	heart
49	chr2:55495400-55496800	Active TSS	Left Ventricle	heart
50	chr2:55495400-55496800	Active TSS	Rectal Smooth Muscle	rectum

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