Variant report

Variant	rs9874010
Chromosome Location	chr3:48712422-48712423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48701660..48704427-chr3:48712006..48713565,2	K562	blood:
2	chr3:48695950..48699824-chr3:48710158..48713070,3	K562	blood:
3	chr3:48708500..48710574-chr3:48712082..48713667,2	K562	blood:
4	chr3:48710449..48713681-chr3:48721332..48723160,4	K562	blood:
5	chr3:48698129..48704726-chr3:48706101..48715056,13	MCF-7	breast:
6	chr3:48710939..48712663-chr3:48716342..48718806,2	K562	blood:

Variant related genes	Relation type
ENSG00000008300	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000271973	Chromatin interaction
ENSG00000228350	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10865953	0.92[YRI][hapmap]
rs4858800	1.00[YRI][hapmap]
rs4858830	0.92[YRI][hapmap]
rs6806356	0.92[YRI][hapmap]
rs7629473	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9822485	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9857756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs990211	0.92[YRI][hapmap]

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	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48701200-48721000	Weak transcription	Fetal Brain Male	brain
2	chr3:48701600-48715400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48701600-48716800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:48701600-48718000	Weak transcription	NHDF-Ad	bronchial
5	chr3:48701600-48720800	Weak transcription	Right Atrium	heart
6	chr3:48701600-48720800	Weak transcription	HUVEC	blood vessel
7	chr3:48701800-48713400	Weak transcription	Pancreas	Pancrea
8	chr3:48701800-48714800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:48701800-48715200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:48701800-48715200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:48701800-48715600	Weak transcription	NH-A	brain
12	chr3:48701800-48715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:48701800-48715800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:48701800-48716800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:48701800-48721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:48702000-48716800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:48702000-48716800	Weak transcription	HSMMtube	muscle
18	chr3:48702000-48721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:48702200-48717000	Weak transcription	K562	blood
20	chr3:48702600-48715000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:48702800-48714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:48702800-48717000	Weak transcription	Fetal Heart	heart
23	chr3:48703200-48715200	Weak transcription	Stomach Mucosa	stomach
24	chr3:48703400-48715600	Weak transcription	Fetal Lung	lung
25	chr3:48703600-48715600	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:48704400-48716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:48705800-48720600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:48707200-48715000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:48707200-48721400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:48708200-48714400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:48708200-48720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:48708200-48720200	Strong transcription	Fetal Brain Female	brain
33	chr3:48708200-48720600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:48708200-48720600	Strong transcription	Fetal Intestine Small	intestine
35	chr3:48708200-48720600	Strong transcription	Fetal Stomach	stomach
36	chr3:48708200-48721000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:48708400-48714400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:48708400-48715000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:48708400-48720400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:48708400-48720400	Strong transcription	Brain Germinal Matrix	brain
41	chr3:48708400-48720400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr3:48708400-48720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:48708400-48721000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:48708600-48720600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:48708800-48720600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr3:48709000-48716800	Weak transcription	A549	lung
47	chr3:48709000-48721600	Weak transcription	Psoas Muscle	Psoas
48	chr3:48709200-48714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:48709200-48715600	Weak transcription	Colonic Mucosa	Colon
50	chr3:48709200-48720200	Strong transcription	Fetal Muscle Trunk	muscle

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