Variant report

Variant	rs548217379
Chromosome Location	chr2:99346652-99346653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99346578-99349177	HepG2	liver:	n/a	n/a
2	EBF1	chr2:99346610-99346895	GM12878	blood:	n/a	n/a
3	JUN	chr2:99346155-99346661	HepG2	liver:	n/a	n/a
4	REST	chr2:99346588-99347023	H1-neurons	neurons:	n/a	chr2:99346967-99346980
5	ELF1	chr2:99346580-99346988	GM12878	blood:	n/a	n/a
6	FOXM1	chr2:99346470-99346921	GM12878	blood:	n/a	n/a
7	MAX	chr2:99346545-99348819	HepG2	liver:	n/a	chr2:99347002-99347012
8	CREB1	chr2:99346553-99348804	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:99346628-99347992	NB4	blood:	n/a	n/a
10	MBD4	chr2:99346220-99346837	HepG2	liver:	n/a	n/a
11	MYC	chr2:99346019-99347403	NB4	blood:	n/a	chr2:99347002-99347012
12	SPI1	chr2:99346605-99347116	HL-60	blood:	n/a	n/a
13	TBP	chr2:99346548-99346896	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr2:99346581-99347285	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr2:99346622-99347083	ECC-1	luminal epithelium:	n/a	chr2:99347002-99347012
16	ZBTB7A	chr2:99346620-99347150	HepG2	liver:	n/a	n/a
17	HDAC2	chr2:99346582-99347341	HepG2	liver:	n/a	n/a
18	MAZ	chr2:99346625-99348050	HepG2	liver:	n/a	chr2:99347002-99347012
19	POLR2A	chr2:99346579-99346825	HepG2	liver:	n/a	n/a
20	MAX	chr2:99346502-99347151	MCF-7	breast:	n/a	chr2:99347002-99347012
21	CEBPB	chr2:99346243-99346870	HepG2	liver:	n/a	n/a
22	MXI1	chr2:99346145-99347305	SK-N-SH	brain:	n/a	chr2:99347009-99347018
23	TAF1	chr2:99346556-99347136	H1-neurons	neurons:	n/a	n/a
24	ZEB1	chr2:99346611-99346869	GM12878	blood:	n/a	n/a
25	MXI1	chr2:99346332-99348316	HepG2	liver:	n/a	chr2:99347009-99347018
26	TAF1	chr2:99346611-99348212	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:99346093-99346938	HUVEC	blood vessel:	n/a	n/a
28	HEY1	chr2:99346496-99349205	HepG2	liver:	n/a	chr2:99347342-99347357 chr2:99347044-99347059 chr2:99347015-99347030 chr2:99348124-99348139 chr2:99348047-99348062
29	MXI1	chr2:99346175-99346957	GM12878	blood:	n/a	n/a
30	RFX5	chr2:99346594-99346809	HepG2	liver:	n/a	chr2:99346721-99346729
31	MBD4	chr2:99346070-99346883	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:99346483-99347408	GM12892	blood:	n/a	n/a
33	MAX	chr2:99346071-99347068	NB4	blood:	n/a	chr2:99347002-99347012
34	BHLHE40	chr2:99346571-99347012	HepG2	liver:	n/a	chr2:99346971-99346987
35	POLR2A	chr2:99346522-99347117	H1-neurons	neurons:	n/a	n/a
36	ZNF263	chr2:99346485-99347247	HEK293-T-REx	kidney:	n/a	n/a
37	HEY1	chr2:99346638-99347015	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:99346509-99347619	H1-neurons	neurons:	n/a	n/a
39	SIN3AK20	chr2:99346589-99347163	HepG2	liver:	n/a	n/a
40	E2F4	chr2:99346523-99346889	MCF10A-Er-Src	breast:	n/a	n/a
41	REST	chr2:99346240-99347372	H1-neurons	neurons:	n/a	chr2:99347087-99347105 chr2:99347069-99347078 chr2:99347210-99347223 chr2:99347050-99347060 chr2:99347072-99347085 chr2:99347322-99347332 chr2:99346967-99346980
42	CEBPD	chr2:99346652-99347301	HepG2	liver:	n/a	n/a
43	ZBTB7A	chr2:99346652-99347284	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:99346543-99347348	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99346635-99346685	NB4	blood:	n/a
2	chr2:99346635-99346685	AoSMC	blood vessel:	n/a
3	chr2:99346635-99346685	HRPEpiC	eye:	n/a
4	chr2:99346635-99346685	HAEpiC	amniotic membrane:	n/a
5	chr2:99346635-99346685	Hepatocyte	liver:	n/a
6	chr2:99346635-99346685	Jurkat	blood:	n/a
7	chr2:99346635-99346685	NT2-D1	testis:	n/a
8	chr2:99346635-99346685	AG09319	gingival:	n/a
9	chr2:99346635-99346685	ovcar-3	ovarian:	n/a
10	chr2:99346635-99346685	BE2_C	brain:	n/a
11	chr2:99346635-99346685	GM12891	blood:	n/a
12	chr2:99346635-99346685	HL-60	blood:	n/a
13	chr2:99346635-99346685	HEEpiC	esophagus:	n/a
14	chr2:99346635-99346685	Hela-S3	cervix:	n/a
15	chr2:99346635-99346685	HCPEpiC	choroid plexus:	n/a
16	chr2:99346635-99346685	MCF-7	breast:	n/a
17	chr2:99346635-99346685	CMK	blood:	n/a
18	chr2:99346635-99346685	HRE	kidney:	n/a
19	chr2:99346635-99346685	NH-A	brain:	n/a
20	chr2:99346635-99346685	MCF10A-Er-Src	breast:	n/a
21	chr2:99346635-99346685	AG10803	skin:	n/a
22	chr2:99346635-99346685	BJ	skin:	n/a
23	chr2:99346635-99346685	HepG2	liver:	n/a
24	chr2:99346635-99346685	IMR90	lung:	fetal
25	chr2:99346635-99346685	SK-N-SH	brain:	n/a
26	chr2:99346635-99346685	RPTEC	kidney:	n/a
27	chr2:99346635-99346685	SK-N-MC	brain:	n/a
28	chr2:99346635-99346685	GM06990	blood:	n/a
29	chr2:99346635-99346685	GM12878	blood:	n/a
30	chr2:99346635-99346685	HCT-116	colon:	n/a
31	chr2:99346635-99346685	AG04449	skin:	fetal
32	chr2:99346635-99346685	ECC-1	luminal epithelium:	n/a
33	chr2:99346635-99346685	PFSK-1	brain:	n/a
34	chr2:99346635-99346685	LNCaP	prostate:	n/a
35	chr2:99346635-99346685	K562	blood:	n/a
36	chr2:99346635-99346685	HNPCEpiC	eye:	n/a
37	chr2:99346635-99346685	SAEC	small airway:	n/a
38	chr2:99346635-99346685	HMEC	breast:	n/a
39	chr2:99346635-99346685	HCF	heart:	n/a
40	chr2:99346635-99346685	AG09309	skin:	n/a
41	chr2:99346635-99346685	SKMC	muscle:	n/a
42	chr2:99346635-99346685	A549	lung:	n/a
43	chr2:99346635-99346685	SK-N-SH_RA	brain:	n/a
44	chr2:99346635-99346685	Caco-2	colon:	n/a
45	chr2:99346635-99346685	PANC-1	pancreas:	n/a
46	chr2:99346635-99346685	GM19239	blood:	n/a
47	chr2:99346635-99346685	NHDF-neo	bronchial:	n/a
48	chr2:99346635-99346685	T-47D	breast:	n/a
49	chr2:99346635-99346685	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:99346635-99346685	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:99221557..99223102-chr2:99346482..99348239,2	MCF-7	breast:
2	chr2:99343338..99345259-chr2:99346373..99348700,3	MCF-7	breast:
3	chr2:99345360..99347894-chr2:99396622..99399352,2	MCF-7	breast:
4	chr2:99342514..99344879-chr2:99346177..99348798,2	K562	blood:
5	chr2:99344922..99348721-chr2:99382903..99389092,6	MCF-7	breast:
6	chr2:99342228..99344879-chr2:99346177..99348874,2	K562	blood:
7	chr2:99345368..99349321-chr2:99385005..99390572,6	MCF-7	breast:

No data

Variant related genes	Relation type
MGAT4A	TF binding region
MGAT4A	CpG island
ENSG00000226791	Chromatin interaction
ENSG00000071073	Chromatin interaction
ENSG00000201070	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3377346	chr2:99345945-99348493	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3405477	chr2:99346570-99349018	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99342800-99346800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:99343800-99346800	Flanking Active TSS	Dnd41	blood
3	chr2:99344200-99348400	Active TSS	Primary T cells fromperipheralblood	blood
4	chr2:99344600-99347000	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr2:99344600-99348600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:99344800-99348600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr2:99345000-99347000	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:99345000-99348800	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:99345200-99348400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:99345400-99348400	Active TSS	Primary T cells from cord blood	blood
11	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:99345600-99348400	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:99345600-99348400	Active TSS	Fetal Intestine Large	intestine
15	chr2:99345600-99349200	Active TSS	Colonic Mucosa	Colon
16	chr2:99345800-99346800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:99345800-99347000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:99345800-99348200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:99345800-99348200	Active TSS	Brain Anterior Caudate	brain
20	chr2:99345800-99348200	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:99345800-99348400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:99345800-99348400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:99345800-99348400	Active TSS	Ovary	ovary
24	chr2:99345800-99348400	Active TSS	Psoas Muscle	Psoas
25	chr2:99345800-99348400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:99345800-99348400	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr2:99345800-99348400	Active TSS	Small Intestine	intestine
28	chr2:99345800-99348600	Active TSS	Right Atrium	heart
29	chr2:99345800-99348800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr2:99345800-99348800	Active TSS	Fetal Intestine Small	intestine
31	chr2:99345800-99348800	Active TSS	Right Ventricle	heart
32	chr2:99345800-99349400	Active TSS	Pancreas	Pancrea
33	chr2:99346000-99346800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:99346000-99346800	Flanking Active TSS	Fetal Thymus	thymus
35	chr2:99346000-99347000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:99346000-99347000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:99346000-99348200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:99346000-99348400	Active TSS	Brain Hippocampus Middle	brain
39	chr2:99346000-99348400	Active TSS	Brain Substantia Nigra	brain
40	chr2:99346000-99348600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:99346000-99348600	Bivalent/Poised TSS	HepG2	liver
42	chr2:99346200-99346800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:99346200-99346800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr2:99346200-99346800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:99346200-99346800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:99346200-99347000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:99346200-99347000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:99346200-99347000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:99346200-99347000	Flanking Active TSS	Liver	Liver
50	chr2:99346200-99348200	Active TSS	Rectal Mucosa Donor 31	rectum

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