Variant report

Variant	rs6728935
Chromosome Location	chr2:113442808-113442809
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113383314..113385378-chr2:113441903..113443465,2	MCF-7	breast:
2	chr2:113414861..113418760-chr2:113440477..113444224,4	K562	blood:
3	chr2:113411615..113414143-chr2:113441711..113444242,3	K562	blood:
4	chr2:113441073..113442990-chr2:113446510..113448315,2	MCF-7	breast:
5	chr2:113442700..113444556-chr2:113457075..113459685,2	MCF-7	breast:
6	chr2:113439718..113441433-chr2:113442493..113444348,2	K562	blood:
7	chr2:113441111..113444198-chr2:113446439..113450510,4	MCF-7	breast:
8	chr2:113403180..113405105-chr2:113440364..113443067,3	MCF-7	breast:
9	chr2:113421512..113426143-chr2:113441172..113445759,7	K562	blood:
10	chr2:113439858..113444017-chr2:113482331..113485894,3	K562	blood:
11	chr2:113440402..113444876-chr2:113446106..113453600,11	K562	blood:
12	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10172772	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779885	0.82[ASN][1000 genomes]
rs11676751	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680181	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11682676	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467747	0.82[ASN][1000 genomes]
rs4261730	0.82[ASN][1000 genomes]
rs4337479	0.86[JPT][hapmap]
rs4848287	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848288	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4848289	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849101	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4849102	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55801413	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55912748	0.82[EUR][1000 genomes]
rs6705487	0.86[JPT][hapmap]
rs6711158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746908	0.86[JPT][hapmap]
rs7589655	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113421400-113448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113423200-113445000	Weak transcription	Fetal Brain Male	brain
3	chr2:113423400-113448400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:113437000-113445800	Enhancers	Hela-S3	cervix
5	chr2:113437400-113446200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:113437400-113449800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:113437600-113446000	Weak transcription	Fetal Brain Female	brain
8	chr2:113438800-113443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:113439200-113443200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:113439800-113446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:113440000-113444800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:113441000-113443000	Enhancers	HSMMtube	muscle
13	chr2:113441000-113444400	Enhancers	GM12878-XiMat	blood
14	chr2:113441200-113443000	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:113441200-113443200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:113441200-113443200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:113441200-113443200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:113441400-113445800	Weak transcription	Colonic Mucosa	Colon
19	chr2:113441600-113446000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:113441600-113448400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:113441800-113443800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:113441800-113443800	Weak transcription	Fetal Thymus	thymus
23	chr2:113441800-113443800	Weak transcription	Dnd41	blood
24	chr2:113441800-113444000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:113441800-113444000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:113441800-113444000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:113441800-113444000	Weak transcription	Spleen	Spleen
28	chr2:113441800-113445800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:113441800-113445800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:113441800-113446000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:113441800-113448400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:113441800-113448800	Weak transcription	Esophagus	oesophagus
33	chr2:113442000-113446000	Weak transcription	Stomach Mucosa	stomach
34	chr2:113442200-113444000	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:113442200-113444400	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:113442200-113446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:113442400-113443200	Weak transcription	Placenta	Placenta
38	chr2:113442400-113443800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:113442400-113444600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:113442400-113448400	Weak transcription	Lung	lung
41	chr2:113442600-113449800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:113442800-113443000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:113442800-113443000	Enhancers	HUVEC	blood vessel
44	chr2:113442800-113443800	Enhancers	K562	blood
45	chr2:113442800-113444400	Enhancers	Primary B cells from cord blood	blood

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