Variant report

Variant	rs11684484
Chromosome Location	chr2:10425949-10425950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10424312..10426665-chr2:10442705..10445320,2	K562	blood:
2	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
3	chr2:10393383..10395595-chr2:10425523..10427994,2	MCF-7	breast:
4	chr2:10423331..10426574-chr2:10438305..10440403,3	K562	blood:
5	chr2:10425416..10427502-chr2:10437383..10439645,2	K562	blood:
6	chr2:10425226..10425981-chr2:10442233..10443192,2	MCF-7	breast:
7	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:
8	chr2:10412779..10415250-chr2:10424064..10426883,2	MCF-7	breast:
9	chr2:10418589..10420185-chr2:10425009..10427268,2	MCF-7	breast:
10	chr2:10425395..10428329-chr2:10430052..10432008,2	MCF-7	breast:
11	chr2:10421994..10428607-chr2:10439137..10445249,17	MCF-7	breast:
12	chr2:10416195..10418762-chr2:10425700..10428798,3	MCF-7	breast:
13	chr2:10424760..10427362-chr2:10571844..10574068,2	MCF-7	breast:
14	chr2:10421389..10428688-chr2:10440606..10446723,13	MCF-7	breast:
15	chr2:10424782..10426457-chr2:10440963..10442554,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10929652	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614028	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs4669565	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4669566	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669570	0.97[ASN][1000 genomes]
rs6432085	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2762357	chr2:10401309-10426323	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10421600-10426200	Enhancers	K562	blood
2	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:10422000-10427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10422200-10427000	Enhancers	NHDF-Ad	bronchial
5	chr2:10422200-10427800	Enhancers	HMEC	breast
6	chr2:10422400-10426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10422400-10426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:10422400-10427000	Enhancers	NH-A	brain
9	chr2:10422400-10427000	Enhancers	Osteobl	bone
10	chr2:10422600-10426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:10422600-10427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:10422800-10426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10422800-10427200	Enhancers	Adipose Nuclei	Adipose
14	chr2:10422800-10427400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:10422800-10427400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:10422800-10427400	Enhancers	Brain Substantia Nigra	brain
17	chr2:10422800-10427600	Enhancers	Brain Anterior Caudate	brain
18	chr2:10422800-10428000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:10423000-10426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:10423000-10426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:10423000-10426800	Enhancers	HUVEC	blood vessel
22	chr2:10423000-10427400	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:10423000-10427600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:10423200-10426800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:10423400-10426800	Enhancers	Spleen	Spleen
26	chr2:10423400-10427000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:10423400-10429800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:10423600-10427200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:10424000-10426600	Enhancers	Primary B cells from cord blood	blood
30	chr2:10424400-10426200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:10424400-10426400	Enhancers	HSMMtube	muscle
32	chr2:10424400-10427400	Enhancers	Brain Angular Gyrus	brain
33	chr2:10424400-10427400	Enhancers	Fetal Muscle Leg	muscle
34	chr2:10424400-10429600	Enhancers	Liver	Liver
35	chr2:10424600-10427200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:10424600-10427400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:10424800-10426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:10424800-10426600	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:10424800-10426800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:10424800-10427000	Enhancers	Placenta	Placenta
41	chr2:10424800-10427200	Enhancers	Fetal Brain Female	brain
42	chr2:10424800-10427200	Enhancers	Right Ventricle	heart
43	chr2:10424800-10427400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:10425000-10426200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:10425000-10426200	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:10425000-10426400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:10425000-10426600	Enhancers	Fetal Intestine Large	intestine
48	chr2:10425000-10427200	Enhancers	Colon Smooth Muscle	Colon
49	chr2:10425000-10427200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:10425000-10427800	Enhancers	Stomach Mucosa	stomach

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