Variant report

Variant	rs17013072
Chromosome Location	chr2:33701308-33701309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:33700717-33702101	SK-N-SH	brain:	n/a	chr2:33701003-33701019 chr2:33701006-33701015
2	POLR2A	chr2:33700567-33701893	GM12878	blood:	n/a	n/a
3	MAX	chr2:33701212-33701966	ECC-1	luminal epithelium:	n/a	chr2:33701649-33701659
4	USF2	chr2:33700787-33702059	GM12878	blood:	n/a	n/a
5	RELA	chr2:33700211-33702190	GM18526	blood:	n/a	n/a
6	EBF1	chr2:33700388-33701978	GM12878	blood:	n/a	chr2:33700576-33700587
7	FOXM1	chr2:33700303-33702187	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:33700152-33705186	GM19099	blood:	n/a	n/a
9	MAX	chr2:33700639-33702172	SK-N-SH	brain:	n/a	chr2:33701649-33701659
10	POLR2A	chr2:33700551-33701917	GM12878	blood:	n/a	n/a
11	RUNX3	chr2:33700458-33702025	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr2:33701129-33701939	SK-N-SH	brain:	n/a	n/a
13	BHLHE40	chr2:33700770-33701939	K562	blood:	n/a	n/a
14	MAX	chr2:33700653-33702084	GM12878	blood:	n/a	chr2:33701649-33701659
15	MXI1	chr2:33700396-33702267	IMR90	lung:	n/a	n/a
16	IRF4	chr2:33700619-33701863	GM12878	blood:	n/a	chr2:33701257-33701271 chr2:33701259-33701273
17	TCF12	chr2:33700481-33702031	A549	lung:	n/a	n/a
18	POLR2A	chr2:33700636-33702282	GM12878	blood:	n/a	n/a
19	RELA	chr2:33700355-33702099	GM19099	blood:	n/a	n/a
20	TAF1	chr2:33701106-33701877	GM12878	blood:	n/a	n/a
21	PBX3	chr2:33700695-33702060	SK-N-SH	brain:	n/a	n/a
22	PAX5	chr2:33700633-33701968	GM12878	blood:	n/a	n/a
23	TCF3	chr2:33701224-33701862	GM12878	blood:	n/a	n/a
24	TCF3	chr2:33701097-33701959	GM12878	blood:	n/a	n/a
25	MAX	chr2:33700626-33702179	A549	lung:	n/a	chr2:33701649-33701659
26	CTCF	chr2:33701180-33701330	AG10803	skin:	n/a	chr2:33701309-33701317
27	RELA	chr2:33700429-33705116	GM18505	blood:	n/a	n/a
28	MAFK	chr2:33700781-33701964	IMR90	lung:	n/a	n/a
29	RELA	chr2:33700209-33705022	GM10847	blood:	n/a	n/a
30	CUX1	chr2:33700790-33702544	GM12878	blood:	n/a	n/a
31	MTA3	chr2:33700107-33705192	GM12878	blood:	n/a	n/a
32	PML	chr2:33700257-33705210	GM12878	blood:	n/a	n/a
33	MAX	chr2:33700599-33701986	HCT-116	colon:	n/a	chr2:33701649-33701659
34	RUNX3	chr2:33700294-33702198	GM12878	blood:	n/a	n/a
35	SMC3	chr2:33700727-33701720	Hela-S3	cervix:	n/a	chr2:33701304-33701318
36	FOXA2	chr2:33700567-33701611	A549	lung:	n/a	n/a
37	RAD21	chr2:33700376-33702154	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr2:33700371-33702209	GM12878	blood:	n/a	n/a
39	CTCF	chr2:33700486-33702089	SK-N-SH	brain:	n/a	chr2:33701309-33701317
40	POLR2A	chr2:33700467-33705188	GM12878	blood:	n/a	n/a
41	ELF1	chr2:33700629-33701439	GM12878	blood:	n/a	chr2:33701013-33701026
42	ATF1	chr2:33700744-33701743	K562	blood:	n/a	n/a
43	POLR2A	chr2:33701183-33701986	HL-60	blood:	n/a	n/a
44	GATA3	chr2:33700617-33702178	SK-N-SH	brain:	n/a	chr2:33701003-33701019 chr2:33701006-33701015
45	ZNF217	chr2:33700879-33701321	MCF-7	breast:	n/a	n/a
46	GATA1	chr2:33700685-33701950	K562	blood:	n/a	chr2:33701003-33701019 chr2:33701006-33701015
47	BCLAF1	chr2:33700472-33702155	GM12878	blood:	n/a	chr2:33701471-33701478
48	RELA	chr2:33700401-33702168	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:33700612-33701908	GM12891	blood:	n/a	n/a
50	WRNIP1	chr2:33700571-33702057	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33701285-33701335	GM19239	blood:	n/a
2	chr2:33701285-33701335	H1-hESC	embryonic stem cell:	embryo
3	chr2:33701285-33701335	A549	lung:	n/a
4	chr2:33701285-33701335	NHBE	bronchial:	n/a
5	chr2:33701285-33701335	HMEC	breast:	n/a
6	chr2:33701285-33701335	AG09309	skin:	n/a
7	chr2:33701285-33701335	Hepatocyte	liver:	n/a
8	chr2:33701285-33701335	NHDF-neo	bronchial:	n/a
9	chr2:33701285-33701335	IMR90	lung:	fetal
10	chr2:33701285-33701335	BJ	skin:	n/a
11	chr2:33701285-33701335	NB4	blood:	n/a
12	chr2:33701285-33701335	AG04449	skin:	fetal
13	chr2:33701285-33701335	HCF	heart:	n/a
14	chr2:33701285-33701335	MCF10A-Er-Src	breast:	n/a
15	chr2:33701285-33701335	Hela-S3	cervix:	n/a
16	chr2:33701285-33701335	ECC-1	luminal epithelium:	n/a
17	chr2:33701285-33701335	PFSK-1	brain:	n/a
18	chr2:33701285-33701335	HAEpiC	amniotic membrane:	n/a
19	chr2:33701285-33701335	AG10803	skin:	n/a
20	chr2:33701285-33701335	AG04450	lung:	fetal
21	chr2:33701285-33701335	SK-N-SH_RA	brain:	n/a
22	chr2:33701285-33701335	PrEC	prostate:	n/a
23	chr2:33701285-33701335	SK-N-SH	brain:	n/a
24	chr2:33701285-33701335	HCT-116	colon:	n/a
25	chr2:33701285-33701335	HEK293	kidney:	embryo
26	chr2:33701285-33701335	HNPCEpiC	eye:	n/a
27	chr2:33701285-33701335	HCPEpiC	choroid plexus:	n/a
28	chr2:33701285-33701335	SK-N-MC	brain:	n/a
29	chr2:33701285-33701335	HRPEpiC	eye:	n/a
30	chr2:33701285-33701335	GM06990	blood:	n/a
31	chr2:33701285-33701335	HEEpiC	esophagus:	n/a
32	chr2:33701285-33701335	T-47D	breast:	n/a
33	chr2:33701285-33701335	AG09319	gingival:	n/a
34	chr2:33701285-33701335	ProgFib	skin:	n/a
35	chr2:33701285-33701335	HepG2	liver:	n/a
36	chr2:33701285-33701335	LNCaP	prostate:	n/a
37	chr2:33701285-33701335	Caco-2	colon:	n/a
38	chr2:33701285-33701335	BE2_C	brain:	n/a
39	chr2:33701285-33701335	HUVEC	blood vessel:	n/a
40	chr2:33701285-33701335	PANC-1	pancreas:	n/a
41	chr2:33701285-33701335	SKMC	muscle:	n/a
42	chr2:33701285-33701335	SAEC	small airway:	n/a
43	chr2:33701285-33701335	HRE	kidney:	n/a
44	chr2:33701285-33701335	HIPEpiC	eye:	n/a
45	chr2:33701285-33701335	U87	brain:	n/a
46	chr2:33701285-33701335	HRCEpiC	kidney:	n/a
47	chr2:33701285-33701335	NH-A	brain:	n/a
48	chr2:33701285-33701335	GM12878	blood:	n/a
49	chr2:33701285-33701335	GM12891	blood:	n/a
50	chr2:33701285-33701335	CMK	blood:	n/a

No data

Variant related genes	Relation type
RASGRP3	TF binding region
RASGRP3	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17013059	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35826724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:33700600-33701400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33700600-33701400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:33700600-33701400	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr2:33700600-33701600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:33700600-33701600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:33700600-33701800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:33700600-33701800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:33700600-33701800	Active TSS	A549	lung
9	chr2:33700600-33701800	Flanking Active TSS	Hela-S3	cervix
10	chr2:33700600-33702000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:33700600-33702000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:33700600-33702000	Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:33700600-33702000	Active TSS	Esophagus	oesophagus
14	chr2:33700600-33702000	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:33700600-33702000	Active TSS	HMEC	breast
16	chr2:33700600-33702000	Active TSS	HSMM	muscle
17	chr2:33700600-33702000	Active TSS	HSMMtube	muscle
18	chr2:33700600-33702000	Active TSS	NH-A	brain
19	chr2:33700600-33702000	Active TSS	NHEK	skin
20	chr2:33700600-33702200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:33700600-33702200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:33700600-33702200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:33700600-33702200	Active TSS	Colon Smooth Muscle	Colon
24	chr2:33700600-33702200	Flanking Active TSS	K562	blood
25	chr2:33700600-33702200	Active TSS	NHLF	lung
26	chr2:33700600-33702400	Active TSS	Colonic Mucosa	Colon
27	chr2:33700600-33702400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:33700600-33702400	Active TSS	Fetal Thymus	thymus
29	chr2:33700600-33702400	Active TSS	Thymus	Thymus
30	chr2:33700600-33702600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:33700600-33702600	Active TSS	Fetal Muscle Trunk	muscle
32	chr2:33700600-33702600	Active TSS	Left Ventricle	heart
33	chr2:33700600-33702600	Active TSS	Psoas Muscle	Psoas
34	chr2:33700600-33702800	Flanking Active TSS	HUVEC	blood vessel
35	chr2:33700600-33703000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:33700600-33703000	Active TSS	Right Atrium	heart
37	chr2:33700600-33703200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:33700600-33703400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:33700600-33703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:33700600-33703400	Active TSS	Right Ventricle	heart
41	chr2:33700800-33701400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:33700800-33701400	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr2:33700800-33701400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr2:33700800-33701400	Active TSS	Osteobl	bone
45	chr2:33700800-33701600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:33700800-33701600	Active TSS	Primary T cells from cord blood	blood
47	chr2:33700800-33701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:33700800-33701800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr2:33700800-33701800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:33700800-33701800	Active TSS	Fetal Heart	heart

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