Variant report

Variant	rs256893
Chromosome Location	chr5:16614242-16614243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:16614144-16614331	SH-SY5Y	brain:	n/a	chr5:16614186-16614196 chr5:16614185-16614197 chr5:16614183-16614199 chr5:16614188-16614195 chr5:16614186-16614195 chr5:16614183-16614199
2	IRF1	chr5:16614227-16614532	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:16614241-16614291	AoSMC	blood vessel:	n/a
2	chr5:16614241-16614291	BE2_C	brain:	n/a
3	chr5:16614241-16614291	SAEC	small airway:	n/a
4	chr5:16614241-16614291	AG04449	skin:	fetal
5	chr5:16614241-16614291	CMK	blood:	n/a
6	chr5:16614241-16614291	GM12891	blood:	n/a
7	chr5:16614241-16614291	RPTEC	kidney:	n/a
8	chr5:16614241-16614291	HL-60	blood:	n/a
9	chr5:16614241-16614291	H1-hESC	embryonic stem cell:	embryo
10	chr5:16614241-16614291	SK-N-SH	brain:	n/a
11	chr5:16614241-16614291	HCPEpiC	choroid plexus:	n/a
12	chr5:16614241-16614291	HIPEpiC	eye:	n/a
13	chr5:16614241-16614291	HEEpiC	esophagus:	n/a
14	chr5:16614241-16614291	HNPCEpiC	eye:	n/a
15	chr5:16614241-16614291	HCT-116	colon:	n/a
16	chr5:16614241-16614291	BJ	skin:	n/a
17	chr5:16614241-16614291	NH-A	brain:	n/a
18	chr5:16614241-16614291	HCF	heart:	n/a
19	chr5:16614241-16614291	AG09319	gingival:	n/a
20	chr5:16614241-16614291	SK-N-SH_RA	brain:	n/a
21	chr5:16614241-16614291	HMEC	breast:	n/a
22	chr5:16614241-16614291	NHBE	bronchial:	n/a
23	chr5:16614241-16614291	IMR90	lung:	fetal
24	chr5:16614241-16614291	T-47D	breast:	n/a
25	chr5:16614241-16614291	HepG2	liver:	n/a
26	chr5:16614241-16614291	Jurkat	blood:	n/a
27	chr5:16614241-16614291	NHDF-neo	bronchial:	n/a
28	chr5:16614241-16614291	AG09309	skin:	n/a
29	chr5:16614241-16614291	HEK293	kidney:	embryo
30	chr5:16614241-16614291	GM12892	blood:	n/a
31	chr5:16614241-16614291	PrEC	prostate:	n/a
32	chr5:16614241-16614291	GM19239	blood:	n/a
33	chr5:16614241-16614291	MCF-7	breast:	n/a
34	chr5:16614241-16614291	MCF10A-Er-Src	breast:	n/a
35	chr5:16614241-16614291	HRPEpiC	eye:	n/a
36	chr5:16614241-16614291	HRE	kidney:	n/a
37	chr5:16614241-16614291	HCM	heart:	n/a
38	chr5:16614241-16614291	NB4	blood:	n/a
39	chr5:16614241-16614291	HRCEpiC	kidney:	n/a
40	chr5:16614241-16614291	HAEpiC	amniotic membrane:	n/a
41	chr5:16614241-16614291	NT2-D1	testis:	n/a
42	chr5:16614241-16614291	Hela-S3	cervix:	n/a
43	chr5:16614241-16614291	ECC-1	luminal epithelium:	n/a
44	chr5:16614241-16614291	PANC-1	pancreas:	n/a
45	chr5:16614241-16614291	GM06990	blood:	n/a
46	chr5:16614241-16614291	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:16614241-16614291	AG10803	skin:	n/a
48	chr5:16614241-16614291	A549	lung:	n/a
49	chr5:16614241-16614291	ProgFib	skin:	n/a
50	chr5:16614241-16614291	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16593743..16596156-chr5:16613042..16615565,2	MCF-7	breast:
2	chr5:16600836..16605070-chr5:16611486..16614397,4	MCF-7	breast:
3	chr5:16612051..16614492-chr5:16615286..16617614,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246214	TF binding region
ENSG00000250415	TF binding region
ENSG00000250415	CpG island
ENSG00000246214	CpG island
ENSG00000250415	Chromatin interaction
ENSG00000246214	Chromatin interaction
ENSG00000154153	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs14153	0.88[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs185384	0.91[CEU][hapmap]
rs257175	0.88[CEU][hapmap]
rs35005	0.81[CEU][hapmap]
rs410808	0.88[CEU][hapmap]
rs450657	0.82[JPT][hapmap]
rs866884	0.88[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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs256893	FLJ20152	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16585400-16615600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:16589000-16614800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:16590200-16616000	Weak transcription	Pancreas	Pancrea
4	chr5:16592000-16615000	Weak transcription	Fetal Thymus	thymus
5	chr5:16593600-16615600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:16594200-16614600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:16596000-16615800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:16598800-16616000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:16601000-16615600	Weak transcription	Fetal Brain Male	brain
10	chr5:16601000-16615600	Weak transcription	Fetal Brain Female	brain
11	chr5:16601200-16614400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:16601400-16614600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:16602600-16615600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:16604000-16614600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:16607200-16615600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:16607200-16616000	Weak transcription	Right Ventricle	heart
17	chr5:16610200-16614600	Weak transcription	Right Atrium	heart
18	chr5:16610400-16614400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:16610400-16614600	Weak transcription	Fetal Heart	heart
20	chr5:16610400-16614800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:16610400-16614800	Weak transcription	Brain Anterior Caudate	brain
22	chr5:16610400-16614800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:16610400-16615600	Weak transcription	Brain Substantia Nigra	brain
24	chr5:16610400-16616000	Weak transcription	Left Ventricle	heart
25	chr5:16611200-16614600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr5:16611600-16615200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:16611600-16615600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:16611600-16615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:16612200-16615600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:16612400-16614600	Weak transcription	Thymus	Thymus
31	chr5:16612800-16614800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:16613000-16615600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:16613400-16614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:16613400-16614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:16613600-16614600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:16614000-16614600	Active TSS	Brain Cingulate Gyrus	brain
37	chr5:16614000-16615000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:16614000-16615600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr5:16614000-16616000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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