Variant report

Variant	rs3112221
Chromosome Location	chr2:95816563-95816564
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:95816394-95816670	MCF10A-Er-Src	breast:	n/a	n/a
2	SETDB1	chr2:95813768-95817361	K562	blood:	n/a	n/a
3	ZNF274	chr2:95813712-95817955	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95816122..95821729-chr2:95829524..95833130,7	MCF-7	breast:
2	chr2:95784318..95787765-chr2:95816431..95819356,4	K562	blood:
3	chr2:95814038..95816803-chr2:95823104..95826705,3	MCF-7	breast:
4	chr2:95816230..95819209-chr2:95829975..95833039,3	MCF-7	breast:
5	chr2:95815556..95817462-chr2:95823544..95826217,2	MCF-7	breast:
6	chr2:95801270..95804011-chr2:95816186..95820133,3	K562	blood:

No data

Variant related genes	Relation type
MRPS5	TF binding region
ENSG00000163067	Chromatin interaction
ENSG00000144026	Chromatin interaction
ENSG00000144029	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10195614	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1104775	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12992066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17119148	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966272	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2001254	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010533	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2098768	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2291991	0.84[EUR][1000 genomes]
rs2320339	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320619	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320620	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2320621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2320624	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105100	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105101	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105102	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105104	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105105	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112222	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112223	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112225	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112228	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112231	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112982	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3112983	0.84[EUR][1000 genomes]
rs3112984	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112985	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112986	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112987	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112990	0.82[ASN][1000 genomes]
rs3112995	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112996	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112999	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3113001	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772044	0.82[EUR][1000 genomes]
rs4854243	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4854244	0.86[EUR][1000 genomes]
rs4854247	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4854249	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6719098	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723333	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6725821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585473	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585914	0.84[EUR][1000 genomes]
rs7586229	0.84[EUR][1000 genomes]
rs872580	0.85[EUR][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	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
2	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
3	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
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95803000-95821600	ZNF genes & repeats	Fetal Brain Female	brain
2	chr2:95803400-95821400	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr2:95803600-95822600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr2:95807600-95819200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
5	chr2:95807800-95821200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr2:95807800-95823200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:95808000-95821600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr2:95808000-95821600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
9	chr2:95808000-95823200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:95808200-95819000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr2:95808200-95821200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr2:95808200-95821400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:95808200-95821400	ZNF genes & repeats	Fetal Lung	lung
14	chr2:95808200-95822000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:95808200-95822200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr2:95808200-95823000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr2:95808200-95823400	ZNF genes & repeats	Liver	Liver
18	chr2:95808400-95819000	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr2:95808400-95820200	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr2:95808400-95823800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:95808600-95820200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr2:95809400-95823000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:95809400-95824600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:95809600-95820200	ZNF genes & repeats	Left Ventricle	heart
25	chr2:95809600-95823600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:95809600-95823600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:95809600-95823800	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr2:95809800-95818200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr2:95809800-95819200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:95809800-95820000	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr2:95809800-95820200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr2:95809800-95820400	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr2:95809800-95823600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:95810000-95819000	ZNF genes & repeats	Brain Angular Gyrus	brain
35	chr2:95810000-95820000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:95810000-95822800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr2:95810000-95824400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:95811400-95819000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:95811400-95820200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
40	chr2:95811400-95823400	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:95811400-95823800	ZNF genes & repeats	NHDF-Ad	bronchial
42	chr2:95812000-95820400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr2:95812000-95821600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:95812200-95817400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:95812200-95818400	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr2:95812200-95820200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr2:95812200-95820800	ZNF genes & repeats	HSMM	muscle
48	chr2:95812200-95821800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr2:95812200-95824400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:95812200-95824400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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