Variant report

Variant	rs4769779
Chromosome Location	chr13:30508860-30508861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30508008..30510755-chr13:30510923..30512750,2	MCF-7	breast:
2	chr13:30502030..30504176-chr13:30507351..30509428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122043	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1093631	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs1325368	0.84[ASN][1000 genomes]
rs17631642	0.84[ASN][1000 genomes]
rs17688104	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs3843677	0.88[ASN][1000 genomes]
rs3843678	0.85[ASN][1000 genomes]
rs4318068	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769781	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585668	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634413	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs646917	0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7319246	0.87[ASN][1000 genomes]
rs7320271	0.87[ASN][1000 genomes]
rs7320355	0.87[ASN][1000 genomes]
rs7320728	0.87[ASN][1000 genomes]
rs7322038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339208	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74042894	0.87[ASN][1000 genomes]
rs7992473	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7994222	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843883	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912788	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs927731	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs927732	0.80[CHB][hapmap];0.87[ASN][1000 genomes]
rs927733	0.82[ASN][1000 genomes]
rs9314990	0.82[AMR][1000 genomes]
rs9314991	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9506244	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9508594	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:30508000-30509400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:30508000-30509400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:30508000-30510000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:30508000-30510000	Enhancers	Thymus	Thymus
8	chr13:30508200-30509000	Enhancers	HSMM	muscle
9	chr13:30508200-30509400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:30508200-30509800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr13:30508200-30510000	Enhancers	Primary T cells from cord blood	blood
12	chr13:30508200-30510000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:30508200-30510000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:30508400-30509400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr13:30508400-30509800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr13:30508400-30509800	Enhancers	Fetal Brain Female	brain
17	chr13:30508400-30510000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr13:30508400-30510000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr13:30508400-30510000	Enhancers	Fetal Thymus	thymus
20	chr13:30508600-30509000	Enhancers	Brain Anterior Caudate	brain
21	chr13:30508600-30509200	Enhancers	Fetal Muscle Leg	muscle
22	chr13:30508600-30509400	Enhancers	GM12878-XiMat	blood
23	chr13:30508600-30509800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr13:30508600-30510400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:30508800-30509000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:30508800-30509800	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:30508800-30510600	Enhancers	Fetal Brain Male	brain

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