Variant report

Variant	rs34250288
Chromosome Location	chr1:93257619-93257620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
2	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
3	chr1:93256019..93258677-chr1:93296885..93300584,5	K562	blood:
4	chr1:93250688..93252404-chr1:93256005..93257637,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11164803	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11164814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164820	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11577426	0.86[EUR][1000 genomes]
rs11578004	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11578098	0.83[EUR][1000 genomes]
rs11581705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583778	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585590	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11588545	0.83[AMR][1000 genomes]
rs11589122	0.88[AMR][1000 genomes]
rs11589660	0.83[EUR][1000 genomes]
rs11591094	0.84[EUR][1000 genomes]
rs11800409	0.86[EUR][1000 genomes]
rs11800771	0.83[EUR][1000 genomes]
rs11800848	0.83[EUR][1000 genomes]
rs11803097	0.86[EUR][1000 genomes]
rs11805007	0.86[AMR][1000 genomes]
rs11805229	0.86[EUR][1000 genomes]
rs11805698	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11807962	0.88[AMR][1000 genomes]
rs11808092	0.88[AMR][1000 genomes]
rs11809055	0.85[EUR][1000 genomes]
rs11809700	0.80[EUR][1000 genomes]
rs11810111	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11810217	0.86[EUR][1000 genomes]
rs12731107	0.86[EUR][1000 genomes]
rs12733238	0.85[AMR][1000 genomes]
rs12738833	0.83[EUR][1000 genomes]
rs12738964	1.00[ASN][1000 genomes]
rs12743005	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12746893	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12749480	0.86[EUR][1000 genomes]
rs12749786	0.86[EUR][1000 genomes]
rs12756698	0.86[EUR][1000 genomes]
rs1333743	0.88[AMR][1000 genomes]
rs1415296	0.86[AMR][1000 genomes]
rs17614449	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2051841	0.86[EUR][1000 genomes]
rs34202284	0.86[EUR][1000 genomes]
rs34221961	0.85[AMR][1000 genomes]
rs34231012	0.88[AMR][1000 genomes]
rs34288890	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34305407	0.86[EUR][1000 genomes]
rs34734076	0.88[AMR][1000 genomes]
rs34761380	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34812295	0.86[AMR][1000 genomes]
rs34843292	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35038369	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35241270	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35311203	0.86[EUR][1000 genomes]
rs35435370	0.86[EUR][1000 genomes]
rs35526187	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35612297	0.86[EUR][1000 genomes]
rs35699160	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35705463	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35901796	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114576	0.84[EUR][1000 genomes]
rs3790450	0.88[AMR][1000 genomes]
rs4642892	0.85[AMR][1000 genomes]
rs56044027	0.86[AMR][1000 genomes]
rs59864761	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66649041	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67026262	0.84[EUR][1000 genomes]
rs67646822	0.84[EUR][1000 genomes]
rs67876779	0.84[EUR][1000 genomes]
rs68160001	0.82[EUR][1000 genomes]
rs71652503	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71652507	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72724555	0.83[EUR][1000 genomes]
rs72724574	0.86[EUR][1000 genomes]
rs72724586	0.86[EUR][1000 genomes]
rs72724587	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93255800-93260000	Weak transcription	HepG2	liver
2	chr1:93256800-93258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93256800-93258000	Active TSS	Right Atrium	heart
4	chr1:93256800-93258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:93256800-93258800	Enhancers	Fetal Heart	heart
6	chr1:93257000-93258000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:93257000-93258400	Flanking Active TSS	K562	blood
8	chr1:93257200-93258000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:93257200-93258000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:93257200-93258000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:93257200-93258200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:93257200-93258200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:93257200-93258600	Active TSS	Stomach Mucosa	stomach
14	chr1:93257200-93258600	Enhancers	Hela-S3	cervix
15	chr1:93257400-93257800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:93257400-93257800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:93257400-93257800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:93257400-93257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:93257400-93257800	Active TSS	Fetal Stomach	stomach
20	chr1:93257400-93257800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:93257400-93258000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:93257400-93258200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:93257400-93258400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:93257400-93258400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:93257400-93258400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:93257400-93258400	Flanking Active TSS	HUVEC	blood vessel
27	chr1:93257600-93258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:93257600-93258000	Enhancers	Fetal Lung	lung
29	chr1:93257600-93258000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:93257600-93258200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:93257600-93258400	Enhancers	NHEK	skin
32	chr1:93257600-93258800	Enhancers	H1 Cell Line	embryonic stem cell

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