Variant report

Variant	rs17033248
Chromosome Location	chr4:103683126-103683127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:103682755-103683448	H1-hESC	embryonic stem cell:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
2	RFX5	chr4:103683109-103683335	HepG2	liver:	n/a	n/a
3	MXI1	chr4:103680771-103683339	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr4:103683074-103683432	Hela-S3	cervix:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
5	MAFF	chr4:103682984-103683446	HepG2	liver:	n/a	chr4:103683250-103683268 chr4:103683249-103683263
6	MAFK	chr4:103682384-103683446	HepG2	liver:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103682516-103682531 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
7	REST	chr4:103680844-103683126	H1-neurons	neurons:	n/a	chr4:103682171-103682184
8	MXI1	chr4:103680746-103683282	IMR90	lung:	n/a	n/a
9	MAFF	chr4:103683051-103683438	K562	blood:	n/a	chr4:103683250-103683268 chr4:103683249-103683263
10	MAFK	chr4:103683032-103683442	K562	blood:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
11	MAFK	chr4:103682692-103683453	HepG2	liver:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
12	MAFK	chr4:103682927-103683538	GM12878	blood:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267
13	MAFK	chr4:103683067-103683445	IMR90	lung:	n/a	chr4:103683254-103683268 chr4:103683246-103683266 chr4:103683251-103683267 chr4:103683256-103683267 chr4:103683249-103683263 chr4:103683255-103683266 chr4:103683248-103683264 chr4:103683251-103683266 chr4:103683256-103683267

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:103683115-103683165	PFSK-1	brain:	n/a
2	chr4:103683115-103683165	Hepatocyte	liver:	n/a
3	chr4:103683115-103683165	PrEC	prostate:	n/a
4	chr4:103683115-103683165	GM06990	blood:	n/a
5	chr4:103683115-103683165	HEK293	kidney:	embryo
6	chr4:103683115-103683165	AG04450	lung:	fetal
7	chr4:103683115-103683165	HCPEpiC	choroid plexus:	n/a
8	chr4:103683115-103683165	BE2_C	brain:	n/a
9	chr4:103683115-103683165	HMEC	breast:	n/a
10	chr4:103683115-103683165	SAEC	small airway:	n/a
11	chr4:103683115-103683165	RPTEC	kidney:	n/a
12	chr4:103683115-103683165	BJ	skin:	n/a
13	chr4:103683115-103683165	ProgFib	skin:	n/a
14	chr4:103683115-103683165	GM12892	blood:	n/a
15	chr4:103683115-103683165	AG09319	gingival:	n/a
16	chr4:103683115-103683165	Caco-2	colon:	n/a
17	chr4:103683115-103683165	MCF10A-Er-Src	breast:	n/a
18	chr4:103683115-103683165	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:103683115-103683165	ovcar-3	ovarian:	n/a
20	chr4:103683115-103683165	SKMC	muscle:	n/a
21	chr4:103683115-103683165	SK-N-MC	brain:	n/a
22	chr4:103683115-103683165	HepG2	liver:	n/a
23	chr4:103683115-103683165	NT2-D1	testis:	n/a
24	chr4:103683115-103683165	HAEpiC	amniotic membrane:	n/a
25	chr4:103683115-103683165	AG04449	skin:	fetal
26	chr4:103683115-103683165	HRPEpiC	eye:	n/a
27	chr4:103683115-103683165	ECC-1	luminal epithelium:	n/a
28	chr4:103683115-103683165	Hela-S3	cervix:	n/a
29	chr4:103683115-103683165	NHDF-neo	bronchial:	n/a
30	chr4:103683115-103683165	MCF-7	breast:	n/a
31	chr4:103683115-103683165	HCT-116	colon:	n/a
32	chr4:103683115-103683165	HEEpiC	esophagus:	n/a
33	chr4:103683115-103683165	AoSMC	blood vessel:	n/a
34	chr4:103683115-103683165	NB4	blood:	n/a
35	chr4:103683115-103683165	HRE	kidney:	n/a
36	chr4:103683115-103683165	AG10803	skin:	n/a
37	chr4:103683115-103683165	HCM	heart:	n/a
38	chr4:103683115-103683165	SK-N-SH_RA	brain:	n/a
39	chr4:103683115-103683165	GM19239	blood:	n/a
40	chr4:103683115-103683165	HNPCEpiC	eye:	n/a
41	chr4:103683115-103683165	NHBE	bronchial:	n/a
42	chr4:103683115-103683165	A549	lung:	n/a
43	chr4:103683115-103683165	Jurkat	blood:	n/a
44	chr4:103683115-103683165	T-47D	breast:	n/a
45	chr4:103683115-103683165	SK-N-SH	brain:	n/a
46	chr4:103683115-103683165	U87	brain:	n/a
47	chr4:103683115-103683165	GM12878	blood:	n/a
48	chr4:103683115-103683165	HUVEC	blood vessel:	n/a
49	chr4:103683115-103683165	HIPEpiC	eye:	n/a
50	chr4:103683115-103683165	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103680041..103683633-chr4:103747125..103750295,6	MCF-7	breast:
2	chr4:103680426..103684137-chr4:103744957..103747230,3	K562	blood:
3	chr4:103672500..103675104-chr4:103681931..103684100,2	K562	blood:

Variant related genes	Relation type
MANBA	TF binding region
MANBA	CpG island
ENSG00000251288	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10489108	1.00[CHB][hapmap]
rs17033210	1.00[CHB][hapmap]
rs17033222	1.00[CHB][hapmap]
rs17033351	1.00[CEU][hapmap]
rs3974625	1.00[CEU][hapmap]
rs6811212	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6827148	1.00[CEU][hapmap]
rs6847207	1.00[CEU][hapmap]
rs6857760	1.00[CHB][hapmap]
rs7668564	1.00[CEU][hapmap]
rs7670008	1.00[CHB][hapmap]
rs7670621	1.00[CEU][hapmap]
rs7670680	1.00[CEU][hapmap]
rs7677366	1.00[CEU][hapmap]
rs7677599	1.00[CEU][hapmap]
rs7690706	1.00[CEU][hapmap]
rs7698383	1.00[CEU][hapmap]
rs7699703	1.00[CEU][hapmap]
rs9307278	1.00[CEU][hapmap]

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	nsv1008110	chr4:103560583-103684526	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103680600-103683200	Active TSS	GM12878-XiMat	blood
2	chr4:103680800-103683200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr4:103680800-103683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:103680800-103683200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:103681000-103683200	Active TSS	Aorta	Aorta
6	chr4:103681000-103683200	Active TSS	Fetal Brain Female	brain
7	chr4:103681000-103683400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:103681000-103684000	Active TSS	Ovary	ovary
9	chr4:103681200-103683400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:103681400-103683200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:103681400-103683200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:103681400-103683200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:103681600-103683200	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:103682000-103683200	Active TSS	Brain Germinal Matrix	brain
15	chr4:103682200-103683200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr4:103682200-103683200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:103682200-103683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:103682400-103683200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:103682400-103683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:103682400-103683200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr4:103682400-103683200	Active TSS	Right Atrium	heart
22	chr4:103682400-103683200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr4:103682400-103683200	Flanking Active TSS	Dnd41	blood
24	chr4:103682600-103683200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:103682600-103683200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr4:103682600-103683200	Flanking Active TSS	Osteobl	bone
27	chr4:103682800-103683200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:103682800-103683200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:103682800-103683200	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:103682800-103683200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:103682800-103683200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr4:103682800-103683200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:103682800-103683200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr4:103682800-103683200	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr4:103682800-103683200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr4:103682800-103683200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr4:103682800-103683200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr4:103682800-103683200	Flanking Active TSS	Fetal Heart	heart
39	chr4:103682800-103683200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr4:103682800-103683200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:103682800-103683200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr4:103682800-103683200	Flanking Active TSS	HepG2	liver
43	chr4:103682800-103683200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr4:103683000-103683200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr4:103683000-103683200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:103683000-103683200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr4:103683000-103683200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:103683000-103683200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:103683000-103683200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr4:103683000-103683200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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