Variant report

Variant	rs10814190
Chromosome Location	chr9:3508284-3508285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:3505863..3515695-chr9:3520675..3529318,33	K562	blood:
2	chr9:3500140..3503117-chr9:3505256..3509401,4	K562	blood:
3	chr9:3507570..3510389-chr9:4297452..4299363,2	MCF-7	breast:
4	chr9:3505495..3510523-chr9:3529335..3535947,8	K562	blood:

Variant related genes	Relation type
ENSG00000080298	Chromatin interaction
ENSG00000232104	Chromatin interaction
ENSG00000107249	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10114162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10114838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10115088	0.86[JPT][hapmap]
rs10115578	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10119982	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap]
rs10121096	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs10814188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10814189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10814208	0.95[JPT][hapmap]
rs10814233	0.86[JPT][hapmap]
rs10972435	0.86[JPT][hapmap]
rs12004862	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12238307	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12340274	0.83[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs12345145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12353393	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12553270	0.82[CHB][hapmap]
rs1342542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2027089	0.90[GIH][hapmap];0.86[JPT][hapmap]
rs28510559	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7022948	0.82[JPT][hapmap]
rs7026025	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7027862	0.82[JPT][hapmap]
rs7041399	0.86[JPT][hapmap]
rs7857554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7861625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7871777	0.90[JPT][hapmap]
rs881167	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1022795	chr9:3436845-3744623	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv892091	chr9:3459635-3508284	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv539944	chr9:3476471-3535344	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv973446	chr9:3503588-3509368	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3474400-3524400	Weak transcription	Thymus	Thymus
2	chr9:3479800-3508800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:3479800-3511600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:3480600-3508800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:3480600-3510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:3480600-3524600	Weak transcription	Left Ventricle	heart
7	chr9:3483200-3508400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:3498800-3508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:3499000-3508600	Weak transcription	HSMM	muscle
10	chr9:3499200-3508800	Weak transcription	HSMMtube	muscle
11	chr9:3500000-3508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:3500200-3508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:3500400-3508400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:3500400-3508600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:3500400-3516800	Weak transcription	Psoas Muscle	Psoas
16	chr9:3501000-3508800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:3501000-3508800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:3503000-3524400	Weak transcription	Fetal Thymus	thymus
19	chr9:3505600-3510400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:3506000-3508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:3506000-3508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:3506400-3511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:3506600-3508800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:3506800-3522000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr9:3507400-3508400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:3507400-3509400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr9:3507400-3509400	Enhancers	Primary B cells from peripheral blood	blood
28	chr9:3507400-3509800	Active TSS	K562	blood
29	chr9:3507400-3510200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr9:3507400-3510400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:3507600-3508800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:3507600-3509000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:3507600-3509000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr9:3507600-3509800	Active TSS	A549	lung
35	chr9:3507800-3508400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:3507800-3508400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:3507800-3508600	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:3507800-3509000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr9:3507800-3509400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:3507800-3509400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr9:3507800-3509400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr9:3507800-3510800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:3507800-3510800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:3508000-3508400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:3508000-3508400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr9:3508000-3508400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:3508000-3508400	Active TSS	Duodenum Mucosa	Duodenum
48	chr9:3508000-3508600	Active TSS	Primary hematopoietic stem cells	blood
49	chr9:3508000-3508800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr9:3508000-3509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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