Variant report

Variant	rs9814547
Chromosome Location	chr3:53921323-53921324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53914370..53917222-chr3:53919581..53923156,3	MCF-7	breast:
2	chr3:53913333..53919757-chr3:53920203..53928086,26	K562	blood:
3	chr3:53919776..53924259-chr3:53924368..53927481,7	K562	blood:

Variant related genes	Relation type
ENSG00000113811	Chromatin interaction
ENSG00000113812	Chromatin interaction
ENSG00000222888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10490844	1.00[ASW][hapmap]
rs73841258	1.00[AMR][1000 genomes]
rs73841283	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1010575	chr3:53846741-53934781	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv997771	chr3:53852695-53926635	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1002141	chr3:53858541-53934781	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr3:53916200-53924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53916200-53924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:53916600-53921800	Strong transcription	HSMM	muscle
4	chr3:53916600-53922000	Weak transcription	K562	blood
5	chr3:53916600-53923400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:53916600-53924000	Weak transcription	Psoas Muscle	Psoas
7	chr3:53916600-53924000	Weak transcription	A549	lung
8	chr3:53916600-53924400	Weak transcription	Fetal Kidney	kidney
9	chr3:53916600-53924800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:53916600-53924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:53916600-53924800	Weak transcription	Aorta	Aorta
12	chr3:53916800-53922000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:53916800-53922000	Weak transcription	Fetal Heart	heart
14	chr3:53916800-53923200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:53916800-53923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:53916800-53923400	Weak transcription	Fetal Brain Male	brain
17	chr3:53916800-53924000	Weak transcription	Stomach Mucosa	stomach
18	chr3:53916800-53924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:53916800-53924600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:53916800-53924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:53917000-53921400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:53917000-53922000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:53917000-53922400	Strong transcription	Brain Germinal Matrix	brain
24	chr3:53917000-53922800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:53917000-53923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:53917200-53921400	Strong transcription	Fetal Brain Female	brain
27	chr3:53917200-53921400	Strong transcription	Fetal Stomach	stomach
28	chr3:53917200-53921800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:53917200-53922000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:53917200-53922200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:53917200-53922400	Strong transcription	Liver	Liver
32	chr3:53917200-53922400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:53917200-53922400	Strong transcription	Osteobl	bone
34	chr3:53917200-53922600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:53917200-53922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:53917200-53922600	Strong transcription	Fetal Muscle Leg	muscle
37	chr3:53917200-53922800	Strong transcription	Primary B cells from cord blood	blood
38	chr3:53917200-53922800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:53917200-53923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:53917200-53923400	Strong transcription	Fetal Intestine Large	intestine
41	chr3:53917400-53921400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:53917400-53921400	Strong transcription	NH-A	brain
43	chr3:53917400-53921800	Strong transcription	Pancreas	Pancrea
44	chr3:53917400-53922600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:53917400-53923200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:53917600-53921600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:53917600-53921800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:53917600-53921800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:53917600-53921800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:53917600-53922000	Strong transcription	Stomach Smooth Muscle	stomach

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