Variant report

Variant	rs7701844
Chromosome Location	chr5:89936235-89936236
allele	A/G
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	ELK1	chr5:89936080-89936534	GM12878	blood:	n/a	n/a
2	MYC	chr5:89935879-89937022	K562	blood:	n/a	chr5:89936005-89936016
3	RUNX3	chr5:89936201-89936920	GM12878	blood:	n/a	n/a
4	ARID3A	chr5:89935543-89938116	K562	blood:	n/a	chr5:89937305-89937321
5	TEAD4	chr5:89936235-89937044	K562	blood:	n/a	n/a
6	ATF2	chr5:89936158-89937098	GM12878	blood:	n/a	n/a
7	UBTF	chr5:89936213-89937041	K562	blood:	n/a	n/a
8	MAX	chr5:89936208-89936939	K562	blood:	n/a	n/a
9	EP300	chr5:89935768-89937916	K562	blood:	n/a	chr5:89936917-89936931 chr5:89937484-89937498
10	EP300	chr5:89936186-89936422	SK-N-SH_RA	brain:	n/a	n/a
11	MYC	chr5:89935447-89937053	K562	blood:	n/a	chr5:89936005-89936016
12	TBL1XR1	chr5:89935711-89937044	K562	blood:	n/a	n/a
13	ZC3H11A	chr5:89936190-89936535	K562	blood:	n/a	n/a
14	RUNX3	chr5:89936160-89936946	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:89936229-89936516	K562	blood:	n/a	n/a
16	IRF1	chr5:89935459-89939386	K562	blood:	n/a	chr5:89938049-89938063 chr5:89936029-89936039 chr5:89937488-89937497 chr5:89936830-89936844 chr5:89938048-89938060 chr5:89938404-89938418 chr5:89939229-89939245 chr5:89936830-89936843 chr5:89936829-89936843 chr5:89938045-89938059 chr5:89936831-89936845 chr5:89936830-89936843 chr5:89936830-89936841 chr5:89936827-89936841 chr5:89936831-89936841 chr5:89936830-89936843 chr5:89938049-89938059 chr5:89936829-89936840
17	IRF1	chr5:89935588-89937987	K562	blood:	n/a	chr5:89936029-89936039 chr5:89937488-89937497 chr5:89936830-89936844 chr5:89936830-89936843 chr5:89936829-89936843 chr5:89936831-89936845 chr5:89936830-89936843 chr5:89936830-89936841 chr5:89936827-89936841 chr5:89936831-89936841 chr5:89936830-89936843 chr5:89936829-89936840
18	NFIC	chr5:89936210-89937069	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:89770310..89772686-chr5:89934294..89936742,2	K562	blood:
2	chr5:89701624..89708275-chr5:89936212..89939090,6	K562	blood:
3	chr5:89769121..89772256-chr5:89935164..89938437,4	K562	blood:

Variant related genes	Relation type
GPR98	TF binding region
ENSG00000153140	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10044044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10462487	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10462488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462489	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11951632	0.90[AMR][1000 genomes]
rs11952742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152714	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154558	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs154559	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154561	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154562	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154563	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154564	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154565	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154571	0.89[JPT][hapmap]
rs16868839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16868892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868894	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16868903	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16868906	0.90[AMR][1000 genomes]
rs16868924	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16868927	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16868932	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs168743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs171629	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173660	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs187278	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs189691	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2366776	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs250367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250371	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs257848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40205	0.84[JPT][hapmap]
rs45478296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45507696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4916807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918113	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56002033	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56360530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57437217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58132310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58598764	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59496152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60359999	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60562826	0.82[AMR][1000 genomes]
rs60651883	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61525440	0.86[AMR][1000 genomes]
rs66977476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67556741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68045375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68096329	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656677	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72782722	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7729644	0.82[AMR][1000 genomes]
rs9293546	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs950692	0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89918000-89950600	Weak transcription	Pancreas	Pancrea
2	chr5:89919600-89936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:89925200-89936400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:89925400-89938600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:89928800-89940000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:89928800-89941000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:89929000-89936400	Weak transcription	Fetal Brain Female	brain
8	chr5:89929000-89936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:89929000-89940400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:89929000-89948600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:89934200-89939800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:89934800-89936400	Enhancers	GM12878-XiMat	blood
13	chr5:89934800-89936800	Enhancers	Fetal Brain Male	brain
14	chr5:89935200-89937000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:89935200-89938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:89935400-89936400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:89935400-89938200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:89935600-89936400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:89935600-89937800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:89935800-89936400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:89935800-89936800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:89935800-89936800	Enhancers	Brain Germinal Matrix	brain
23	chr5:89935800-89940000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:89935800-89941400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:89936000-89936600	Enhancers	HSMMtube	muscle
26	chr5:89936000-89937200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:89936000-89937200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:89936000-89937800	Enhancers	HSMM	muscle
29	chr5:89936200-89936600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:89936200-89936600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:89936200-89937000	Flanking Active TSS	K562	blood
32	chr5:89936200-89937400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:89936200-89938600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:89936200-89939000	Enhancers	Primary monocytes fromperipheralblood	blood

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