Variant report

Variant	rs10204079
Chromosome Location	chr2:234762099-234762100
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234761712..234762368-chr4:32022794..32023621,2	Hela-S3	cervix:
2	chr2:234399142..234401068-chr2:234759873..234762356,2	MCF-7	breast:
3	chr2:234761504..234764477-chr2:234824983..234827662,2	MCF-7	breast:
4	chr2:234760939..234763453-chr2:235403879..235406192,2	K562	blood:
5	chr2:234759783..234762312-chr2:234875051..234877633,2	K562	blood:
6	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
7	chr2:234387565..234390486-chr2:234761608..234763193,2	MCF-7	breast:
8	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000188042	Chromatin interaction
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10164928	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185631	0.88[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11890203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399418	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862931	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17863803	1.00[CHD][hapmap]
rs28901875	0.85[YRI][hapmap]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
2	chr2:234740400-234762200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:234742200-234762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:234744000-234762400	Weak transcription	Small Intestine	intestine
5	chr2:234753200-234762200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:234756600-234762600	Transcr. at gene 5' and 3'	A549	lung
7	chr2:234759000-234762600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr2:234760400-234762200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:234760400-234762400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:234760400-234762400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr2:234760400-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:234760600-234762200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr2:234760600-234762400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:234760600-234762400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr2:234760600-234762400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:234760600-234762400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:234760600-234762400	Flanking Active TSS	Osteobl	bone
18	chr2:234760600-234762600	Flanking Active TSS	HUVEC	blood vessel
19	chr2:234760800-234762200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
20	chr2:234760800-234762400	Transcr. at gene 5' and 3'	K562	blood
21	chr2:234760800-234762800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:234760800-234762800	Flanking Active TSS	Thymus	Thymus
23	chr2:234760800-234763000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr2:234761000-234762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:234761000-234762200	Enhancers	Primary B cells from cord blood	blood
26	chr2:234761000-234762400	Weak transcription	Spleen	Spleen
27	chr2:234761000-234762600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234761200-234762200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:234761200-234762200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:234761200-234762200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:234761200-234762200	Flanking Active TSS	NHEK	skin
32	chr2:234761200-234762400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:234761200-234762800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:234761200-234763600	Active TSS	NHLF	lung
35	chr2:234761200-234764000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:234761400-234762400	Active TSS	Fetal Brain Female	brain
37	chr2:234761400-234763800	Active TSS	NHDF-Ad	bronchial
38	chr2:234761400-234764000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:234761600-234762200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:234761600-234762200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:234761600-234762200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:234761600-234762200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:234761600-234762800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:234761600-234762800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:234761600-234762800	Flanking Active TSS	Fetal Stomach	stomach
46	chr2:234761600-234763000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr2:234761600-234763600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:234761600-234763600	Active TSS	Hela-S3	cervix
49	chr2:234761600-234763800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr2:234761600-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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