Variant report

Variant	rs30774
Chromosome Location	chr5:14397238-14397239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:14396856-14397349	PBDE	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14397222-14397272	HUVEC	blood vessel:	n/a
2	chr5:14397222-14397272	PrEC	prostate:	n/a
3	chr5:14397222-14397272	Hepatocyte	liver:	n/a
4	chr5:14397222-14397272	Hela-S3	cervix:	n/a
5	chr5:14397222-14397272	SK-N-MC	brain:	n/a
6	chr5:14397222-14397272	PFSK-1	brain:	n/a
7	chr5:14397222-14397272	GM06990	blood:	n/a
8	chr5:14397222-14397272	K562	blood:	n/a
9	chr5:14397222-14397272	MCF10A-Er-Src	breast:	n/a
10	chr5:14397222-14397272	GM12891	blood:	n/a
11	chr5:14397222-14397272	NT2-D1	testis:	n/a
12	chr5:14397222-14397272	HCT-116	colon:	n/a
13	chr5:14397222-14397272	NHDF-neo	bronchial:	n/a
14	chr5:14397222-14397272	BJ	skin:	n/a
15	chr5:14397222-14397272	HEK293	kidney:	embryo
16	chr5:14397222-14397272	GM19239	blood:	n/a
17	chr5:14397222-14397272	HIPEpiC	eye:	n/a
18	chr5:14397222-14397272	HEEpiC	esophagus:	n/a
19	chr5:14397222-14397272	NHBE	bronchial:	n/a
20	chr5:14397222-14397272	U87	brain:	n/a
21	chr5:14397222-14397272	MCF-7	breast:	n/a
22	chr5:14397222-14397272	HCF	heart:	n/a
23	chr5:14397222-14397272	SAEC	small airway:	n/a
24	chr5:14397222-14397272	AG09309	skin:	n/a
25	chr5:14397222-14397272	AG04449	skin:	fetal
26	chr5:14397222-14397272	GM12878	blood:	n/a
27	chr5:14397222-14397272	H1-hESC	embryonic stem cell:	embryo
28	chr5:14397222-14397272	Jurkat	blood:	n/a
29	chr5:14397222-14397272	HL-60	blood:	n/a
30	chr5:14397222-14397272	NH-A	brain:	n/a
31	chr5:14397222-14397272	HepG2	liver:	n/a
32	chr5:14397222-14397272	AG04450	lung:	fetal
33	chr5:14397222-14397272	CMK	blood:	n/a
34	chr5:14397222-14397272	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:14397222-14397272	IMR90	lung:	fetal
36	chr5:14397222-14397272	Caco-2	colon:	n/a
37	chr5:14397222-14397272	HRE	kidney:	n/a
38	chr5:14397222-14397272	HRPEpiC	eye:	n/a
39	chr5:14397222-14397272	A549	lung:	n/a
40	chr5:14397222-14397272	HRCEpiC	kidney:	n/a
41	chr5:14397222-14397272	ProgFib	skin:	n/a
42	chr5:14397222-14397272	SK-N-SH	brain:	n/a
43	chr5:14397222-14397272	AoSMC	blood vessel:	n/a
44	chr5:14397222-14397272	GM12892	blood:	n/a
45	chr5:14397222-14397272	RPTEC	kidney:	n/a
46	chr5:14397222-14397272	HNPCEpiC	eye:	n/a
47	chr5:14397222-14397272	ovcar-3	ovarian:	n/a
48	chr5:14397222-14397272	HAEpiC	amniotic membrane:	n/a
49	chr5:14397222-14397272	NB4	blood:	n/a
50	chr5:14397222-14397272	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14386511..14389114-chr5:14396978..14399315,3	MCF-7	breast:

No data

Variant related genes	Relation type
TRIO	TF binding region
TRIO	CpG island
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11955578	1.00[JPT][hapmap]
rs11957060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11957857	0.98[ASN][1000 genomes]
rs12516600	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs13356126	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13361539	0.80[AFR][1000 genomes]
rs173947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187190	0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs187667	1.00[ASN][1000 genomes]
rs247136	0.98[ASN][1000 genomes]
rs256412	0.96[ASN][1000 genomes]
rs256418	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28343	1.00[ASN][1000 genomes]
rs30606	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs30607	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.90[ASN][1000 genomes]
rs30608	0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.90[ASN][1000 genomes]
rs30609	0.88[ASN][1000 genomes]
rs30610	0.86[ASN][1000 genomes]
rs30611	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs30773	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs30786	1.00[JPT][hapmap]
rs30787	1.00[JPT][hapmap]
rs30788	1.00[JPT][hapmap]
rs30789	1.00[JPT][hapmap]
rs30790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs30791	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs30794	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30795	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30796	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30798	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30800	1.00[ASN][1000 genomes]
rs30801	1.00[ASN][1000 genomes]
rs378369	1.00[ASN][1000 genomes]
rs382403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs389729	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs397319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs40278	1.00[ASN][1000 genomes]
rs40572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs42206	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42404	0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs42555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs42556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr5:14354600-14402400	Strong transcription	Liver	Liver
4	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
6	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:14367400-14399800	Strong transcription	Left Ventricle	heart
11	chr5:14372400-14398600	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:14374400-14399600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14380400-14402800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:14385600-14399000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:14386400-14399600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14386800-14398600	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:14387200-14397800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:14387200-14398600	Strong transcription	A549	lung
19	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:14387800-14399800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:14388000-14399600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:14388000-14402200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:14388200-14398000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:14388200-14400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:14388600-14398000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:14388600-14399600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:14388600-14402600	Strong transcription	Fetal Intestine Large	intestine
28	chr5:14388800-14407200	Weak transcription	Small Intestine	intestine
29	chr5:14389000-14398000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:14390200-14397400	Strong transcription	Adipose Nuclei	Adipose
31	chr5:14390600-14399800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:14392000-14399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:14392200-14402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:14392200-14406600	Weak transcription	Primary T cells from cord blood	blood
35	chr5:14392400-14398600	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:14392400-14399600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:14392400-14399600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:14392400-14399600	Weak transcription	Fetal Brain Male	brain
39	chr5:14392400-14406000	Weak transcription	Fetal Heart	heart
40	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
41	chr5:14392600-14403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:14392800-14397800	Strong transcription	Fetal Stomach	stomach
43	chr5:14393200-14397600	Strong transcription	Right Ventricle	heart
44	chr5:14393200-14398400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:14393200-14402800	Strong transcription	Placenta	Placenta
46	chr5:14393400-14397600	Strong transcription	HepG2	liver
47	chr5:14393400-14398200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:14393400-14402400	Strong transcription	GM12878-XiMat	blood
49	chr5:14393400-14403200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:14393600-14397400	Strong transcription	Brain Anterior Caudate	brain

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