Variant report

Variant	rs10916168
Chromosome Location	chr1:227762003-227762004
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227750097..227752403-chr1:227761734..227764145,2	K562	blood:
2	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:

Variant related genes	Relation type
ENSG00000181450	Chromatin interaction
ENSG00000202264	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10159323	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12031943	1.00[JPT][hapmap]
rs1390402	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1817929	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1826774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1874372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029838	0.86[LWK][hapmap]
rs2313246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453681	0.86[LWK][hapmap];0.85[MKK][hapmap]
rs2492633	1.00[AMR][1000 genomes]
rs2644142	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814062	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814063	0.80[AFR][1000 genomes]
rs2814065	0.86[LWK][hapmap]
rs2819495	0.82[ASW][hapmap];0.93[LWK][hapmap];0.80[AFR][1000 genomes]
rs2819497	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819505	0.86[LWK][hapmap];0.93[MKK][hapmap]
rs2935148	0.82[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2935151	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999739	0.93[AFR][1000 genomes]
rs2999747	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010184	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653513	1.00[AMR][1000 genomes]
rs6426466	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426467	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521659	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540705	0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs903696	0.82[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs976960	0.93[LWK][hapmap];0.93[MKK][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9943170	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227752000-227766800	Weak transcription	Ovary	ovary
2	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
4	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
5	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
6	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:227753600-227763000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:227756800-227762400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:227760200-227773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:227760200-227783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:227760200-227784600	Weak transcription	Fetal Kidney	kidney
14	chr1:227760400-227765400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:227760400-227767000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:227760600-227762400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:227760800-227763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:227760800-227766800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227760800-227766800	Weak transcription	Esophagus	oesophagus
20	chr1:227760800-227766800	Weak transcription	Fetal Stomach	stomach
21	chr1:227760800-227766800	Weak transcription	Left Ventricle	heart
22	chr1:227760800-227766800	Weak transcription	Lung	lung
23	chr1:227760800-227766800	Weak transcription	Pancreas	Pancrea
24	chr1:227760800-227766800	Weak transcription	Right Ventricle	heart
25	chr1:227760800-227766800	Weak transcription	Spleen	Spleen
26	chr1:227760800-227767000	Weak transcription	Gastric	stomach
27	chr1:227760800-227767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:227760800-227767200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:227760800-227772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:227761000-227767000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:227761600-227763600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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