Variant report

Variant	rs3099421
Chromosome Location	chr8:95573367-95573368
allele	C/T
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	MAX	chr8:95573246-95573464	K562	blood:	n/a	n/a
2	POLR2A	chr8:95573257-95573393	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95569874..95571629-chr8:95571639..95574216,2	K562	blood:
2	chr8:95563440..95569104-chr8:95570985..95573855,6	MCF-7	breast:
3	chr8:95571807..95573465-chr8:95730522..95732497,2	MCF-7	breast:
4	chr8:95573335..95575279-chr8:95583967..95586245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253175	TF binding region
ENSG00000164944	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000253704	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10109309	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1866844	0.89[YRI][hapmap]
rs2304765	0.89[YRI][hapmap]
rs3096602	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096605	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs3098711	0.88[YRI][hapmap]
rs3098713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098720	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098721	0.86[YRI][hapmap]
rs3098723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098724	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3098726	0.95[EUR][1000 genomes]
rs3099408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099409	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3099411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099415	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3099416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3099417	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3099418	0.82[YRI][hapmap]
rs3099419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099424	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102843	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3102844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3102863	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102864	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102868	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102869	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3102870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102871	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102872	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102873	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102876	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133598	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];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133606	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133607	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133612	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133613	0.81[EUR][1000 genomes]
rs3133614	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs3133616	0.81[EUR][1000 genomes]
rs3133617	0.83[EUR][1000 genomes]
rs3133623	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs3133624	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs3133638	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133642	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133643	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs3133646	0.86[YRI][hapmap]
rs3133647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133650	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133652	1.00[CEU][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133653	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133659	0.82[YRI][hapmap]
rs3133661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34432191	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36040483	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55771794	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases
13	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95566800-95575200	Weak transcription	Small Intestine	intestine
2	chr8:95566800-95576000	Weak transcription	Fetal Heart	heart
3	chr8:95567000-95575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:95567000-95575200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:95567000-95575200	Weak transcription	Fetal Brain Female	brain
6	chr8:95567000-95575200	Weak transcription	Pancreas	Pancrea
7	chr8:95567000-95575200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:95567000-95575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:95567000-95575400	Weak transcription	Placenta	Placenta
10	chr8:95567000-95575800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:95567000-95576200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:95567000-95576600	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:95567000-95576600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:95567000-95576800	Weak transcription	Lung	lung
15	chr8:95567000-95577000	Weak transcription	Fetal Thymus	thymus
16	chr8:95567000-95577200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95567000-95577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:95567000-95577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
20	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
21	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:95567000-95579600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:95567000-95580600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:95567000-95583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:95567000-95584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:95567200-95573400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:95567200-95574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:95567200-95575000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:95567200-95575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:95567200-95575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:95567200-95576800	Weak transcription	NH-A	brain
32	chr8:95567400-95573400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:95567400-95573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:95567400-95575600	Weak transcription	Primary B cells from cord blood	blood
35	chr8:95568000-95574400	Weak transcription	Dnd41	blood
36	chr8:95569200-95574800	Weak transcription	HepG2	liver
37	chr8:95570000-95573600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:95570000-95574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:95570000-95575200	Weak transcription	Osteobl	bone
40	chr8:95570000-95584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:95570200-95579400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:95570200-95582400	Weak transcription	Brain Substantia Nigra	brain
43	chr8:95570400-95573400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:95570400-95573800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:95570400-95573800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:95570400-95573800	Weak transcription	Fetal Intestine Small	intestine
47	chr8:95570400-95576000	Weak transcription	Right Ventricle	heart
48	chr8:95570400-95579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:95570400-95579200	Weak transcription	Ovary	ovary
50	chr8:95570400-95579600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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