Variant report

Variant	rs111463611
Chromosome Location	chr2:37384240-37384241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:183)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37383380-37384485	K562	blood:	n/a	n/a
2	CBX3	chr2:37384013-37384338	K562	blood:	n/a	n/a
3	POLR2A	chr2:37384007-37384330	U87	brain:	n/a	n/a
4	MYC	chr2:37383361-37384617	MCF10A-Er-Src	breast:	n/a	chr2:37383686-37383696
5	POLR2A	chr2:37383907-37384327	A549	lung:	n/a	n/a
6	MYC	chr2:37384101-37384535	NB4	blood:	n/a	n/a
7	SIN3AK20	chr2:37384057-37384309	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:37383474-37384948	HepG2	liver:	n/a	n/a
9	MYC	chr2:37384138-37384411	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr2:37384054-37384344	K562	blood:	n/a	n/a
11	POLR2A	chr2:37384048-37384394	GM12891	blood:	n/a	n/a
12	POLR2A	chr2:37383892-37384478	U87	brain:	n/a	n/a
13	RELA	chr2:37383590-37384840	GM15510	blood:	n/a	n/a
14	POLR2A	chr2:37383892-37384518	U87	brain:	n/a	n/a
15	TAF1	chr2:37383726-37384388	HepG2	liver:	n/a	n/a
16	CHD2	chr2:37383519-37384673	Hela-S3	cervix:	n/a	n/a
17	STAT1	chr2:37383578-37384318	K562	blood:	n/a	chr2:37384118-37384129
18	HEY1	chr2:37384038-37384345	K562	blood:	n/a	n/a
19	NFIC	chr2:37383936-37384480	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr2:37383730-37384658	HCT-116	colon:	n/a	n/a
21	USF1	chr2:37384096-37384442	SK-N-SH_RA	brain:	n/a	chr2:37384149-37384165
22	EP300	chr2:37384170-37384879	HepG2	liver:	n/a	chr2:37384846-37384859
23	POLR2A	chr2:37383172-37385020	GM12878	blood:	n/a	n/a
24	MAX	chr2:37383082-37384701	A549	lung:	n/a	chr2:37383686-37383696
25	HMGN3	chr2:37383610-37384304	K562	blood:	n/a	n/a
26	RUNX3	chr2:37384025-37384768	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:37383379-37384822	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:37383850-37384491	HUVEC	blood vessel:	n/a	n/a
29	STAT2	chr2:37383258-37384656	K562	blood:	n/a	chr2:37384118-37384129 chr2:37384115-37384130 chr2:37383475-37383487
30	ZEB1	chr2:37383786-37384344	GM12878	blood:	n/a	chr2:37384044-37384053 chr2:37384046-37384053
31	MXI1	chr2:37384084-37384306	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:37383959-37384422	SK-N-SH	brain:	n/a	n/a
33	NANOG	chr2:37384043-37384335	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:37383952-37384939	HepG2	liver:	n/a	n/a
35	MAX	chr2:37383194-37384582	SK-N-SH	brain:	n/a	chr2:37383686-37383696
36	POLR2A	chr2:37383810-37384470	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:37383335-37384867	GM19193	blood:	n/a	n/a
38	MAZ	chr2:37383205-37384333	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:37383125-37385004	GM12891	blood:	n/a	n/a
40	MAX	chr2:37383942-37384528	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr2:37384027-37384312	SK-N-SH_RA	brain:	n/a	chr2:37384114-37384128
42	POLR2A	chr2:37384108-37384274	K562	blood:	n/a	n/a
43	MAX	chr2:37384057-37384713	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:37383811-37384773	GM10847	blood:	n/a	n/a
45	POLR2A	chr2:37383571-37384416	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr2:37383785-37384321	MCF-7	breast:	n/a	n/a
47	ZBTB33	chr2:37384055-37384378	GM12878	blood:	n/a	chr2:37384221-37384236
48	POLR2A	chr2:37384041-37385052	GM12892	blood:	n/a	n/a
49	BRCA1	chr2:37384045-37384415	H1-hESC	embryonic stem cell:	n/a	n/a
50	HCFC1	chr2:37383108-37384935	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37384227-37384277	SK-N-SH_RA	brain:	n/a
2	chr2:37384231-37384281	AG09319	gingival:	n/a
3	chr2:37384231-37384281	GM12891	blood:	n/a
4	chr2:37384227-37384277	Hela-S3	cervix:	n/a
5	chr2:37384231-37384281	NHDF-neo	bronchial:	n/a
6	chr2:37384227-37384277	HIPEpiC	eye:	n/a
7	chr2:37384227-37384277	GM12892	blood:	n/a
8	chr2:37384227-37384277	NHBE	bronchial:	n/a
9	chr2:37384227-37384277	U87	brain:	n/a
10	chr2:37384231-37384281	CMK	blood:	n/a
11	chr2:37384231-37384281	BJ	skin:	n/a
12	chr2:37384227-37384277	BE2_C	brain:	n/a
13	chr2:37384227-37384277	MCF-7	breast:	n/a
14	chr2:37384231-37384281	AG09309	skin:	n/a
15	chr2:37384229-37384279	HL-60	blood:	n/a
16	chr2:37384227-37384277	Jurkat	blood:	n/a
17	chr2:37384229-37384279	HUVEC	blood vessel:	n/a
18	chr2:37384227-37384277	A549	lung:	n/a
19	chr2:37384231-37384281	ECC-1	luminal epithelium:	n/a
20	chr2:37384229-37384279	HEEpiC	esophagus:	n/a
21	chr2:37384229-37384279	SK-N-SH	brain:	n/a
22	chr2:37384227-37384277	AG09319	gingival:	n/a
23	chr2:37384227-37384277	HRCEpiC	kidney:	n/a
24	chr2:37384227-37384277	AG09309	skin:	n/a
25	chr2:37384231-37384281	NH-A	brain:	n/a
26	chr2:37384231-37384281	HCM	heart:	n/a
27	chr2:37384229-37384279	GM12892	blood:	n/a
28	chr2:37384227-37384277	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:37384227-37384277	HNPCEpiC	eye:	n/a
30	chr2:37384229-37384279	RPTEC	kidney:	n/a
31	chr2:37384231-37384281	RPTEC	kidney:	n/a
32	chr2:37384229-37384279	Caco-2	colon:	n/a
33	chr2:37384231-37384281	HAEpiC	amniotic membrane:	n/a
34	chr2:37384229-37384279	AoSMC	blood vessel:	n/a
35	chr2:37384227-37384277	HEEpiC	esophagus:	n/a
36	chr2:37384227-37384277	H1-hESC	embryonic stem cell:	embryo
37	chr2:37384227-37384277	AoSMC	blood vessel:	n/a
38	chr2:37384229-37384279	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:37384229-37384279	HAEpiC	amniotic membrane:	n/a
40	chr2:37384227-37384277	RPTEC	kidney:	n/a
41	chr2:37384231-37384281	HIPEpiC	eye:	n/a
42	chr2:37384231-37384281	NB4	blood:	n/a
43	chr2:37384229-37384279	HRPEpiC	eye:	n/a
44	chr2:37384227-37384277	Hepatocyte	liver:	n/a
45	chr2:37384227-37384277	HEK293	kidney:	embryo
46	chr2:37384231-37384281	Hepatocyte	liver:	n/a
47	chr2:37384231-37384281	HMEC	breast:	n/a
48	chr2:37384231-37384281	Hela-S3	cervix:	n/a
49	chr2:37384229-37384279	T-47D	breast:	n/a
50	chr2:37384227-37384277	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:
2	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
3	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
4	chr2:37372644..37374273-chr2:37382533..37385006,2	K562	blood:
5	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
6	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
7	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2AK2	TF binding region
EIF2AK2	CpG island
ENSG00000233159	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326671	chr2:37383073-37385621	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr2:37382600-37384400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37382600-37384600	Active TSS	Brain Angular Gyrus	brain
3	chr2:37382800-37384400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:37382800-37384400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:37382800-37384400	Active TSS	GM12878-XiMat	blood
6	chr2:37382800-37384600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:37382800-37384600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:37382800-37384600	Active TSS	Fetal Kidney	kidney
9	chr2:37382800-37384600	Active TSS	A549	lung
10	chr2:37382800-37384800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:37383000-37384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:37383000-37384400	Active TSS	NHLF	lung
13	chr2:37383000-37384600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:37383000-37384600	Active TSS	Aorta	Aorta
15	chr2:37383000-37384600	Active TSS	Pancreas	Pancrea
16	chr2:37383000-37384800	Active TSS	HSMM	muscle
17	chr2:37383200-37384400	Active TSS	Fetal Stomach	stomach
18	chr2:37383200-37384400	Active TSS	Gastric	stomach
19	chr2:37383200-37384400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr2:37383200-37384600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:37383200-37384600	Active TSS	Left Ventricle	heart
22	chr2:37383200-37384600	Active TSS	Lung	lung
23	chr2:37383200-37384800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:37383200-37384800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37383200-37384800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:37383200-37385000	Active TSS	Ovary	ovary
27	chr2:37383400-37384400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:37383400-37384400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:37383400-37384400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:37383400-37384400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:37383400-37384400	Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:37383400-37384400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:37383400-37384400	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:37383400-37384400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:37383400-37384400	Active TSS	Colonic Mucosa	Colon
36	chr2:37383400-37384400	Active TSS	Duodenum Mucosa	Duodenum
37	chr2:37383400-37384400	Active TSS	Esophagus	oesophagus
38	chr2:37383400-37384400	Active TSS	Fetal Muscle Leg	muscle
39	chr2:37383400-37384400	Active TSS	Stomach Mucosa	stomach
40	chr2:37383400-37384400	Active TSS	Thymus	Thymus
41	chr2:37383400-37384400	Active TSS	NHEK	skin
42	chr2:37383400-37384600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:37383400-37384600	Active TSS	Brain Anterior Caudate	brain
44	chr2:37383400-37384600	Active TSS	Brain Hippocampus Middle	brain
45	chr2:37383400-37384600	Active TSS	Brain Substantia Nigra	brain
46	chr2:37383400-37384600	Active TSS	Colon Smooth Muscle	Colon
47	chr2:37383400-37384600	Active TSS	Fetal Lung	lung
48	chr2:37383400-37384600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:37383400-37384600	Active TSS	Right Ventricle	heart
50	chr2:37383400-37384600	Active TSS	Sigmoid Colon	Sigmoid Colon

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