Variant report

Variant	rs2291991
Chromosome Location	chr2:95720630-95720631
allele	G/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	POLR2A	chr2:95719866-95720673	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95687101..95691897-chr2:95715547..95720847,7	MCF-7	breast:
2	chr2:95720619..95723205-chr2:95727451..95729974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231062	TF binding region
ENSG00000172005	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs17119148	0.81[EUR][1000 genomes]
rs1875402	0.81[EUR][1000 genomes]
rs2001254	0.84[EUR][1000 genomes]
rs2320619	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2320620	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2320621	0.83[EUR][1000 genomes]
rs2320624	0.83[EUR][1000 genomes]
rs3105098	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3105099	0.90[ASN][1000 genomes]
rs3105100	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105101	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105102	0.81[EUR][1000 genomes]
rs3105104	0.83[EUR][1000 genomes]
rs3105105	0.83[EUR][1000 genomes]
rs3112221	0.84[EUR][1000 genomes]
rs3112222	0.84[EUR][1000 genomes]
rs3112223	0.84[EUR][1000 genomes]
rs3112225	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112228	0.83[EUR][1000 genomes]
rs3112230	0.83[EUR][1000 genomes]
rs3112231	0.87[EUR][1000 genomes]
rs3112982	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112983	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3112984	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112985	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112986	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112987	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3112988	0.81[ASN][1000 genomes]
rs3112990	0.81[ASN][1000 genomes]
rs3112995	0.84[EUR][1000 genomes]
rs3112996	0.84[EUR][1000 genomes]
rs3112997	0.84[EUR][1000 genomes]
rs3113000	0.83[EUR][1000 genomes]
rs3113001	0.83[EUR][1000 genomes]
rs3113002	0.91[ASN][1000 genomes]
rs4241315	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4854241	0.83[EUR][1000 genomes]
rs4854243	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4854244	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4854247	0.81[EUR][1000 genomes]
rs6719098	0.81[EUR][1000 genomes]
rs6723333	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6725821	0.80[EUR][1000 genomes]
rs7565772	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7582368	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7585473	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs872580	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS 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	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95705800-95721600	Genic enhancers	Fetal Thymus	thymus
2	chr2:95706200-95723800	Weak transcription	Fetal Kidney	kidney
3	chr2:95709600-95724000	Weak transcription	Pancreas	Pancrea
4	chr2:95712600-95720800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:95714400-95724400	Weak transcription	Gastric	stomach
6	chr2:95716200-95723000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:95718000-95723000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:95718400-95721800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:95718600-95721200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:95718600-95721400	Weak transcription	Esophagus	oesophagus
11	chr2:95718600-95722600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:95718800-95721400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:95718800-95722800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:95719000-95720800	Genic enhancers	Thymus	Thymus
15	chr2:95719200-95722000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:95719200-95722200	Weak transcription	HMEC	breast
17	chr2:95719400-95724000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:95719600-95721600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:95719600-95723200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:95719800-95720800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:95719800-95721600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:95719800-95723200	Enhancers	Primary T cells from cord blood	blood
23	chr2:95719800-95723600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:95719800-95723600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:95720000-95721400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:95720200-95722400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:95720200-95722800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:95720400-95721000	Weak transcription	GM12878-XiMat	blood
29	chr2:95720400-95721400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:95720400-95722000	Enhancers	Dnd41	blood
31	chr2:95720400-95722400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:95720600-95721600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:95720600-95722600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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