Variant report

Variant	rs13323756
Chromosome Location	chr3:119392101-119392102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119328437..119330333-chr3:119390205..119392685,2	K562	blood:
2	chr3:119384409..119387165-chr3:119391759..119393266,2	K562	blood:
3	chr3:119383387..119384969-chr3:119391616..119393313,2	MCF-7	breast:
4	chr3:119384220..119388638-chr3:119390311..119393902,4	K562	blood:
5	chr3:119389108..119393521-chr3:119393632..119397776,6	MCF-7	breast:
6	chr3:119391312..119393236-chr3:119393602..119396027,2	K562	blood:

Variant related genes	Relation type
ENSG00000121577	Chromatin interaction
ENSG00000138495	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12023	0.86[GIH][hapmap]
rs13062697	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13091305	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs13095802	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17281793	0.94[EUR][1000 genomes]
rs2293235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319013	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2873788	0.82[TSI][hapmap]
rs34775086	0.93[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs6773852	0.94[EUR][1000 genomes]
rs6786295	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789504	0.94[EUR][1000 genomes]
rs6792223	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6794067	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6798542	0.92[EUR][1000 genomes]
rs71325390	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9810361	0.94[EUR][1000 genomes]
rs9821541	0.92[EUR][1000 genomes]
rs9822052	0.94[EUR][1000 genomes]
rs9835803	0.92[ASN][1000 genomes]
rs9837943	0.94[ASN][1000 genomes]
rs9865825	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873256	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873609	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
2	chr3:119379200-119392400	Weak transcription	Esophagus	oesophagus
3	chr3:119379200-119392400	Weak transcription	Gastric	stomach
4	chr3:119383800-119393800	Strong transcription	Primary B cells from cord blood	blood
5	chr3:119384000-119395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:119384200-119394400	Weak transcription	Stomach Mucosa	stomach
7	chr3:119384600-119392400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119384600-119394600	Weak transcription	NH-A	brain
9	chr3:119385200-119392200	Weak transcription	Osteobl	bone
10	chr3:119385400-119394200	Strong transcription	Primary T cells from cord blood	blood
11	chr3:119385400-119394400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:119385600-119394200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:119385600-119394200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:119385600-119394200	Strong transcription	Fetal Thymus	thymus
15	chr3:119385600-119394400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:119385600-119394600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:119385800-119394000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:119385800-119394000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:119385800-119394000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr3:119386000-119394200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:119386000-119394200	Strong transcription	Placenta	Placenta
22	chr3:119386200-119394200	Strong transcription	Dnd41	blood
23	chr3:119386400-119394200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr3:119386400-119394400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:119386600-119394200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:119387000-119394000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:119387000-119394200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:119387400-119392400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:119387400-119392400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:119387400-119393800	Strong transcription	Liver	Liver
31	chr3:119387400-119394000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:119387400-119394200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:119387400-119394400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:119387400-119394600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:119387400-119394600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:119387400-119394600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:119387600-119393800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr3:119387600-119393800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr3:119387600-119394000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:119387800-119392600	Weak transcription	Right Ventricle	heart
41	chr3:119387800-119392600	Strong transcription	HMEC	breast
42	chr3:119387800-119394600	Weak transcription	Small Intestine	intestine
43	chr3:119388000-119394000	Strong transcription	Fetal Lung	lung
44	chr3:119388600-119394200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:119388800-119392400	Weak transcription	NHLF	lung
46	chr3:119388800-119393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:119388800-119394000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:119389000-119394200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:119389000-119394400	Weak transcription	Hela-S3	cervix
50	chr3:119389000-119394400	Strong transcription	HSMM	muscle

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