Variant report

Variant	rs1992151
Chromosome Location	chr2:85880892-85880893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85878852..85881419-chr2:85931468..85933087,2	MCF-7	breast:
2	chr2:85879386..85881998-chr2:85891410..85893784,2	MCF-7	breast:
3	chr2:85880829..85882437-chr2:85885388..85887097,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10182351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190428	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10191726	0.90[ASN][1000 genomes]
rs10302	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1124836	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13383605	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13414982	0.89[AMR][1000 genomes]
rs13418207	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118176	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2232745	0.81[EUR][1000 genomes]
rs2232747	0.81[EUR][1000 genomes]
rs2232750	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2304564	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3198089	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3821020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827550	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6643	0.81[EUR][1000 genomes]
rs6743051	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[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	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85844800-85881600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:85845000-85881400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:85845000-85881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:85845000-85883600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:85845400-85881000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:85845400-85881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:85845400-85886400	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:85845600-85881800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:85845600-85882200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:85845800-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:85845800-85881600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:85845800-85881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:85846000-85881400	Strong transcription	Fetal Stomach	stomach
14	chr2:85846000-85881400	Strong transcription	Fetal Thymus	thymus
15	chr2:85846000-85887000	Strong transcription	Liver	Liver
16	chr2:85846000-85887400	Strong transcription	Fetal Intestine Small	intestine
17	chr2:85846200-85881200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:85846200-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:85846200-85881400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:85846200-85882000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:85846200-85889400	Strong transcription	Thymus	Thymus
22	chr2:85846800-85881400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:85846800-85881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:85847800-85881400	Strong transcription	Dnd41	blood
25	chr2:85856200-85881600	Strong transcription	Primary T cells from cord blood	blood
26	chr2:85856200-85882400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:85861600-85883800	Strong transcription	HMEC	breast
28	chr2:85862000-85887200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:85862200-85881600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:85865000-85881400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:85865000-85884000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:85865800-85881400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:85870800-85881600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:85873200-85882000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:85873200-85886600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:85875600-85881000	Weak transcription	Fetal Kidney	kidney
37	chr2:85876000-85881600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:85876200-85881000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:85876400-85888800	Weak transcription	Fetal Heart	heart
40	chr2:85876400-85888800	Weak transcription	Right Atrium	heart
41	chr2:85876600-85881400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:85876600-85885000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:85876600-85895400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:85876800-85881200	Strong transcription	Primary B cells from cord blood	blood
45	chr2:85876800-85881600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:85877000-85881200	Strong transcription	Adipose Nuclei	Adipose
47	chr2:85877000-85889000	Weak transcription	Stomach Mucosa	stomach
48	chr2:85877000-85890000	Weak transcription	Ovary	ovary
49	chr2:85877200-85881200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:85877200-85883000	Weak transcription	Right Ventricle	heart

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