Variant report

Variant	rs4666448
Chromosome Location	chr2:20834185-20834186
allele	C/T
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20816799..20818621-chr2:20832721..20834434,2	MCF-7	breast:
2	chr2:20727858..20730263-chr2:20832393..20835104,2	MCF-7	breast:
3	chr2:20783319..20786192-chr2:20833674..20835720,2	MCF-7	breast:
4	chr2:20562468..20564727-chr2:20832548..20834392,2	MCF-7	breast:
5	chr17:56735225..56736836-chr2:20832232..20834322,2	MCF-7	breast:
6	chr2:20671558..20673879-chr2:20833720..20836195,3	MCF-7	breast:
7	chr2:20672944..20676325-chr2:20833428..20835504,3	MCF-7	breast:
8	chr2:20823205..20825849-chr2:20832117..20835423,4	MCF-7	breast:
9	chr2:20551601..20553664-chr2:20833641..20836097,2	MCF-7	breast:
10	chr2:20719291..20722049-chr2:20832959..20835797,2	MCF-7	breast:
11	chr2:20690982..20693421-chr2:20832720..20834277,2	MCF-7	breast:
12	chr2:20792259..20795182-chr2:20833683..20836436,3	MCF-7	breast:
13	chr2:20715700..20718175-chr2:20831708..20834413,2	MCF-7	breast:
14	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
15	chr2:20832684..20835412-chr2:20836825..20839113,2	K562	blood:
16	chr2:20724329..20726652-chr2:20833797..20835964,2	MCF-7	breast:
17	chr2:20636110..20639371-chr2:20834157..20837264,3	MCF-7	breast:
18	chr2:20701817..20704482-chr2:20832644..20835192,2	MCF-7	breast:
19	chr2:20709959..20713147-chr2:20833263..20835547,3	MCF-7	breast:
20	chr2:20675942..20677933-chr2:20832476..20834230,2	MCF-7	breast:
21	chr2:20694483..20697401-chr2:20832630..20835726,3	MCF-7	breast:
22	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
23	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:
24	chr2:20833801..20836213-chr2:20848562..20850231,2	K562	blood:
25	chr2:20791456..20794990-chr2:20831460..20836071,5	MCF-7	breast:
26	chr2:20607947..20609876-chr2:20833960..20836883,2	MCF-7	breast:
27	chr2:20696204..20699095-chr2:20831943..20836872,4	MCF-7	breast:
28	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231948	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000252216	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1000829	1.00[EUR][1000 genomes]
rs1000830	1.00[EUR][1000 genomes]
rs11885770	1.00[EUR][1000 genomes]
rs13013492	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13423795	1.00[ASN][1000 genomes]
rs6531250	1.00[EUR][1000 genomes]
rs73224631	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:20818200-20835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:20818200-20835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:20819400-20834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:20819800-20834200	Weak transcription	Osteobl	bone
12	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:20823400-20834200	Weak transcription	Small Intestine	intestine
16	chr2:20824600-20834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20824600-20835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:20824600-20837400	Weak transcription	Thymus	Thymus
19	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:20824600-20839000	Weak transcription	Dnd41	blood
21	chr2:20824800-20837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:20825400-20841000	Weak transcription	Primary B cells from cord blood	blood
23	chr2:20825600-20836600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:20827000-20834200	Weak transcription	NHLF	lung
25	chr2:20827400-20835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:20827400-20835000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:20827400-20835000	Weak transcription	Fetal Heart	heart
28	chr2:20828600-20841800	Strong transcription	Primary T cells from cord blood	blood
29	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:20829000-20834400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:20829400-20835000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:20829600-20835400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:20830000-20834200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:20830000-20835000	Weak transcription	Fetal Kidney	kidney
35	chr2:20830000-20835200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:20831400-20834400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:20831400-20835400	Enhancers	HepG2	liver
38	chr2:20831800-20835200	Enhancers	NHEK	skin
39	chr2:20831800-20835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:20831800-20836000	Genic enhancers	Lung	lung
41	chr2:20832000-20834200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:20832400-20835400	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:20832400-20836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:20832600-20835000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:20832600-20837800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:20832800-20834400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:20832800-20835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:20832800-20835800	Enhancers	Fetal Muscle Leg	muscle
50	chr2:20832800-20836000	Genic enhancers	Spleen	Spleen

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