Variant report

Variant	rs11884097
Chromosome Location	chr2:182645584-182645585
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182637643..182640339-chr2:182643105..182646087,2	K562	blood:
2	chr2:182640852..182647278-chr2:182753659..182759466,8	MCF-7	breast:
3	chr2:182641582..182643700-chr2:182645363..182647512,2	MCF-7	breast:
4	chr2:182645215..182647741-chr2:182652412..182654174,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10165936	0.97[YRI][hapmap];0.90[AFR][1000 genomes]
rs10173114	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10179363	0.89[YRI][hapmap]
rs10179547	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10182213	0.89[AFR][1000 genomes]
rs10183527	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183937	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10190772	0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs10803953	0.90[ASN][1000 genomes]
rs10930979	0.94[ASN][1000 genomes]
rs11886921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11895376	0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs11901603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902910	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425734	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs13428496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343793	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881159	0.87[YRI][hapmap]
rs2037799	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368225	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582999	0.93[ASN][1000 genomes]
rs4018749	0.86[ASN][1000 genomes]
rs4508561	0.80[ASN][1000 genomes]
rs57930770	0.88[ASN][1000 genomes]
rs60384758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730859	0.91[AFR][1000 genomes]
rs6740944	0.88[ASN][1000 genomes]
rs6748354	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs6754481	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567371	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7595805	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937296	0.82[ASN][1000 genomes]
rs951542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
2	chr2:182640600-182646400	Enhancers	HUVEC	blood vessel
3	chr2:182641800-182649600	Enhancers	Fetal Intestine Large	intestine
4	chr2:182641800-182650000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:182642200-182646200	Enhancers	NHEK	skin
6	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
7	chr2:182642400-182646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:182642400-182646600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:182642400-182647200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:182642400-182647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:182642600-182646200	Enhancers	HMEC	breast
12	chr2:182643200-182645600	Enhancers	Brain Anterior Caudate	brain
13	chr2:182643200-182645600	Enhancers	NHLF	lung
14	chr2:182643200-182645800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:182643200-182645800	Enhancers	NH-A	brain
16	chr2:182643200-182646000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:182643200-182646200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:182643200-182646400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:182643400-182645600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:182643400-182645600	Enhancers	Brain Substantia Nigra	brain
21	chr2:182643400-182645600	Enhancers	Placenta	Placenta
22	chr2:182643400-182646000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:182643400-182646000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:182643400-182646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:182643400-182646200	Enhancers	Fetal Muscle Leg	muscle
26	chr2:182643400-182646400	Enhancers	Small Intestine	intestine
27	chr2:182643400-182646600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:182643400-182646600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:182643400-182646800	Enhancers	HepG2	liver
30	chr2:182643400-182647000	Enhancers	Fetal Intestine Small	intestine
31	chr2:182643800-182645600	Enhancers	Brain Angular Gyrus	brain
32	chr2:182643800-182646200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:182644000-182645600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:182644000-182645600	Enhancers	Fetal Lung	lung
35	chr2:182644000-182646000	Enhancers	Fetal Stomach	stomach
36	chr2:182644000-182646200	Enhancers	Dnd41	blood
37	chr2:182644000-182646400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:182644000-182647800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:182644200-182645600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:182644200-182645600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:182644200-182646400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:182644200-182646800	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:182644400-182645800	Enhancers	HSMM	muscle
44	chr2:182644400-182646000	Enhancers	Fetal Thymus	thymus
45	chr2:182644400-182646200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:182644400-182646200	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:182644400-182646200	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:182644400-182646600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr2:182644600-182645600	Enhancers	Colon Smooth Muscle	Colon
50	chr2:182644800-182645600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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