Variant report

Variant	rs7615320
Chromosome Location	chr3:52768233-52768234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52766545..52769494-chr3:52804406..52806680,2	K562	blood:

Variant related genes	Relation type
ENSG00000114904	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1344932	1.00[AMR][1000 genomes]
rs17052322	0.80[AFR][1000 genomes]
rs17052355	0.83[AFR][1000 genomes]
rs17052424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052427	1.00[AMR][1000 genomes]
rs1971811	0.83[AFR][1000 genomes]
rs2079928	1.00[AMR][1000 genomes]
rs41415947	0.83[AFR][1000 genomes]
rs56815357	0.80[AFR][1000 genomes]
rs57401769	0.83[AFR][1000 genomes]
rs57522359	1.00[AMR][1000 genomes]
rs57607481	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57931767	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057636	1.00[AMR][1000 genomes]
rs59182119	1.00[AMR][1000 genomes]
rs60133283	1.00[AMR][1000 genomes]
rs60351358	0.88[AFR][1000 genomes]
rs60945641	1.00[AMR][1000 genomes]
rs61229218	0.83[AMR][1000 genomes]
rs6767229	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779626	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809065	0.83[AFR][1000 genomes]
rs72960298	1.00[AMR][1000 genomes]
rs7616059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7649820	0.88[AFR][1000 genomes];1.00[AMR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
2	chr3:52742200-52768800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:52742400-52771400	Weak transcription	K562	blood
4	chr3:52742400-52772800	Weak transcription	Pancreas	Pancrea
5	chr3:52749000-52771600	Weak transcription	Colonic Mucosa	Colon
6	chr3:52749200-52779800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:52749400-52776200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52756200-52777400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:52761200-52770200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:52761600-52781000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:52761600-52802400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:52762000-52770000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:52762000-52787000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52762400-52772200	Weak transcription	Thymus	Thymus
15	chr3:52762600-52776000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:52763400-52768600	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:52763400-52770200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:52763600-52769400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr3:52763800-52768400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr3:52763800-52769000	Strong transcription	Left Ventricle	heart
21	chr3:52763800-52769200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:52763800-52769600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr3:52763800-52770200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr3:52763800-52788400	Strong transcription	Fetal Brain Female	brain
25	chr3:52763800-52802600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:52764000-52800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:52764000-52802800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:52764200-52769800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:52764200-52770000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr3:52764200-52770200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:52764200-52770200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:52764200-52770400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:52764200-52772000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:52764200-52774200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:52764400-52770200	Strong transcription	Brain Angular Gyrus	brain
36	chr3:52764400-52776000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:52764400-52802600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:52764800-52781600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr3:52764800-52789400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:52765200-52789400	Strong transcription	Adipose Nuclei	Adipose
41	chr3:52765200-52793400	Strong transcription	Fetal Intestine Large	intestine
42	chr3:52765400-52770200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:52765400-52770200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:52765400-52800400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:52765600-52768400	Strong transcription	Aorta	Aorta
46	chr3:52765600-52769000	Strong transcription	Ovary	ovary
47	chr3:52765600-52770000	Strong transcription	Dnd41	blood
48	chr3:52765600-52770200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:52765600-52771600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:52765600-52788800	Strong transcription	Brain Anterior Caudate	brain

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