Variant report

Variant	rs12651582
Chromosome Location	chr4:77176897-77176898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:77176869-77176919	AG04449	skin:	fetal
2	chr4:77176869-77176919	HCT-116	colon:	n/a
3	chr4:77176869-77176919	HRCEpiC	kidney:	n/a
4	chr4:77176869-77176919	A549	lung:	n/a
5	chr4:77176869-77176919	NB4	blood:	n/a
6	chr4:77176869-77176919	HMEC	breast:	n/a
7	chr4:77176869-77176919	MCF-7	breast:	n/a
8	chr4:77176869-77176919	ovcar-3	ovarian:	n/a
9	chr4:77176869-77176919	SAEC	small airway:	n/a
10	chr4:77176869-77176919	AG09309	skin:	n/a
11	chr4:77176869-77176919	HNPCEpiC	eye:	n/a
12	chr4:77176869-77176919	K562	blood:	n/a
13	chr4:77176869-77176919	AG10803	skin:	n/a
14	chr4:77176869-77176919	CMK	blood:	n/a
15	chr4:77176869-77176919	RPTEC	kidney:	n/a
16	chr4:77176869-77176919	SK-N-MC	brain:	n/a
17	chr4:77176869-77176919	NT2-D1	testis:	n/a
18	chr4:77176869-77176919	MCF10A-Er-Src	breast:	n/a
19	chr4:77176869-77176919	HAEpiC	amniotic membrane:	n/a
20	chr4:77176869-77176919	SK-N-SH_RA	brain:	n/a
21	chr4:77176869-77176919	HRE	kidney:	n/a
22	chr4:77176869-77176919	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:77176869-77176919	BE2_C	brain:	n/a
24	chr4:77176869-77176919	NH-A	brain:	n/a
25	chr4:77176869-77176919	GM12878	blood:	n/a
26	chr4:77176869-77176919	PFSK-1	brain:	n/a
27	chr4:77176869-77176919	GM06990	blood:	n/a
28	chr4:77176869-77176919	IMR90	lung:	fetal
29	chr4:77176869-77176919	NHBE	bronchial:	n/a
30	chr4:77176869-77176919	SK-N-SH	brain:	n/a
31	chr4:77176869-77176919	GM12892	blood:	n/a
32	chr4:77176869-77176919	BJ	skin:	n/a
33	chr4:77176869-77176919	HCM	heart:	n/a
34	chr4:77176869-77176919	HRPEpiC	eye:	n/a
35	chr4:77176869-77176919	Jurkat	blood:	n/a
36	chr4:77176869-77176919	PrEC	prostate:	n/a
37	chr4:77176869-77176919	HCPEpiC	choroid plexus:	n/a
38	chr4:77176869-77176919	Caco-2	colon:	n/a
39	chr4:77176869-77176919	AoSMC	blood vessel:	n/a
40	chr4:77176869-77176919	HL-60	blood:	n/a
41	chr4:77176869-77176919	HEEpiC	esophagus:	n/a
42	chr4:77176869-77176919	HepG2	liver:	n/a
43	chr4:77176869-77176919	Hela-S3	cervix:	n/a
44	chr4:77176869-77176919	GM12891	blood:	n/a
45	chr4:77176869-77176919	GM19239	blood:	n/a
46	chr4:77176869-77176919	T-47D	breast:	n/a
47	chr4:77176869-77176919	AG04450	lung:	fetal
48	chr4:77176869-77176919	HEK293	kidney:	embryo
49	chr4:77176869-77176919	ProgFib	skin:	n/a
50	chr4:77176869-77176919	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77165064..77167493-chr4:77174521..77177235,2	K562	blood:
2	chr4:77171208..77175531-chr4:77176138..77180024,6	K562	blood:

No data

Variant related genes	Relation type
FAM47E	CpG island
ENSG00000272414	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11097313	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11097314	0.86[ASN][1000 genomes]
rs12643198	0.80[EUR][1000 genomes]
rs12643261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643334	0.83[ASN][1000 genomes]
rs13117238	0.81[CHB][hapmap];0.82[MEX][hapmap]
rs13119644	0.83[ASN][1000 genomes]
rs13122345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13137733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13151765	0.83[ASN][1000 genomes]
rs1441909	0.83[ASN][1000 genomes]
rs1441910	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1441913	0.83[ASN][1000 genomes]
rs1441914	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1441920	0.80[EUR][1000 genomes]
rs1583944	0.82[ASN][1000 genomes]
rs17236158	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs17308336	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1876536	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1876537	0.86[ASN][1000 genomes]
rs1876538	0.83[ASN][1000 genomes]
rs1876539	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1876541	0.81[ASN][1000 genomes]
rs1876542	0.83[ASN][1000 genomes]
rs1876543	0.83[ASN][1000 genomes]
rs2119731	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2119732	0.80[ASN][1000 genomes]
rs2289514	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2869863	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869865	0.80[ASN][1000 genomes]
rs2869866	0.80[ASN][1000 genomes]
rs2869870	0.83[ASN][1000 genomes]
rs2869871	0.81[ASN][1000 genomes]
rs34034456	0.80[ASN][1000 genomes]
rs34638846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733250	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3733253	0.83[ASN][1000 genomes]
rs3821980	0.83[ASN][1000 genomes]
rs4859437	0.85[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs4859439	0.81[ASN][1000 genomes]
rs4859646	0.80[EUR][1000 genomes]
rs4859648	0.85[CHB][hapmap];0.82[CHD][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4859650	0.86[ASN][1000 genomes]
rs4859651	0.86[ASN][1000 genomes]
rs4859654	0.83[ASN][1000 genomes]
rs4859655	0.83[ASN][1000 genomes]
rs4859656	0.83[ASN][1000 genomes]
rs4859657	0.82[ASN][1000 genomes]
rs56896076	0.80[EUR][1000 genomes]
rs59864739	0.83[ASN][1000 genomes]
rs60397621	0.86[ASN][1000 genomes]
rs60876302	0.83[ASN][1000 genomes]
rs61595008	0.83[ASN][1000 genomes]
rs6813980	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6814195	0.80[ASN][1000 genomes]
rs6823078	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6849069	0.83[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6851219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71607346	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736634	0.83[ASN][1000 genomes]
rs736636	0.83[ASN][1000 genomes]
rs7655112	0.82[ASN][1000 genomes]
rs7655536	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs7665023	0.82[ASN][1000 genomes]
rs7677256	0.90[JPT][hapmap]
rs768979	0.83[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	esv2760851	chr4:77164549-77185144	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516357	chr4:77167242-77178379	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2421530	chr4:77167242-77178676	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173400-77177200	Weak transcription	Aorta	Aorta
2	chr4:77173400-77177400	Weak transcription	Spleen	Spleen
3	chr4:77173400-77177800	Weak transcription	HepG2	liver
4	chr4:77173600-77178000	Weak transcription	Liver	Liver
5	chr4:77173600-77178000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
7	chr4:77173800-77185200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:77173800-77185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:77173800-77185400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:77173800-77186000	Weak transcription	Pancreas	Pancrea
11	chr4:77173800-77191400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:77174000-77177600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:77174000-77185600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:77174200-77178400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:77174200-77186000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:77174400-77178400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:77176200-77186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:77176600-77177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:77176600-77177000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:77176600-77177000	Enhancers	Fetal Thymus	thymus
23	chr4:77176600-77177000	Enhancers	K562	blood
24	chr4:77176600-77177400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:77176600-77178200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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