Variant report

Variant	rs2271026
Chromosome Location	chr2:128050483-128050484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:128049947-128050539	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128045827..128047881-chr2:128049026..128051803,2	MCF-7	breast:
2	chr2:128047217..128049031-chr2:128049443..128051921,3	MCF-7	breast:
3	chr2:128050445..128053038-chr2:128144842..128147674,3	K562	blood:
4	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
5	chr2:128019410..128021681-chr2:128050187..128052921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERCC3	TF binding region
ENSG00000236682	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000169967	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10169028	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178188	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10195774	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206392	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10211382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221754	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439213	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451530	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1128974	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129121	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385611	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs13406313	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421256	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424947	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429050	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13431911	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1604817	0.85[JPT][hapmap]
rs1607437	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755310	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4150448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150487	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150507	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150512	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536600	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs55826634	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56276844	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57011781	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57547812	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878090	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59283013	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59306090	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710541	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6711086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727155	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740067	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740368	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743815	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750648	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753288	0.81[CHD][hapmap]
rs72956480	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956485	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964335	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964338	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964344	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964352	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964361	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564189	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584829	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586961	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599210	0.81[CHD][hapmap]
rs878461	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs908787	0.90[EUR][1000 genomes]
rs9808452	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
2	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
3	chr2:128025000-128050600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:128036600-128050800	Weak transcription	Right Atrium	heart
5	chr2:128037400-128050600	Strong transcription	Right Ventricle	heart
6	chr2:128039200-128050600	Strong transcription	NHEK	skin
7	chr2:128040200-128050600	Strong transcription	Colon Smooth Muscle	Colon
8	chr2:128042200-128050600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:128042200-128050600	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:128042200-128051200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:128042400-128050600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:128042400-128050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:128043000-128050800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:128044200-128050600	Strong transcription	HSMM	muscle
15	chr2:128044600-128050600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:128044600-128050800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:128045400-128050600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:128047400-128051000	Weak transcription	Small Intestine	intestine
19	chr2:128048200-128050600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:128048600-128050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:128049200-128050600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:128049600-128050600	Genic enhancers	Primary T cells from cord blood	blood
23	chr2:128049600-128050600	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr2:128049800-128050800	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr2:128049800-128050800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:128050000-128050600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:128050000-128050600	Genic enhancers	Brain Angular Gyrus	brain
28	chr2:128050000-128050600	Genic enhancers	Brain Cingulate Gyrus	brain
29	chr2:128050000-128050600	Genic enhancers	Fetal Brain Female	brain
30	chr2:128050000-128050600	Genic enhancers	Fetal Stomach	stomach
31	chr2:128050000-128050600	Genic enhancers	Left Ventricle	heart
32	chr2:128050000-128050600	Genic enhancers	Pancreas	Pancrea
33	chr2:128050000-128050600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:128050000-128050800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:128050000-128050800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:128050000-128050800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:128050000-128051000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:128050000-128051600	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr2:128050200-128050600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:128050200-128050600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
41	chr2:128050200-128050600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:128050200-128050600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:128050200-128050600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:128050200-128050600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:128050200-128050600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:128050200-128050600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:128050200-128050600	Genic enhancers	Adipose Nuclei	Adipose
48	chr2:128050200-128050600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
49	chr2:128050200-128050600	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:128050200-128050600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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