Variant report

Variant	rs10738622
Chromosome Location	chr9:2242604-2242605
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:2016060..2018467-chr9:2241276..2243249,2	K562	blood:
2	chr9:2232135..2233681-chr9:2242107..2243678,2	MCF-7	breast:
3	chr9:2231807..2233920-chr9:2241447..2243691,2	MCF-7	breast:
4	chr9:2240721..2243292-chr9:2621569..2623384,2	MCF-7	breast:
5	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
6	chr9:2229721..2232093-chr9:2241469..2243158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147852	Chromatin interaction
ENSG00000080503	Chromatin interaction
ENSG00000236404	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10738627	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10757323	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10811693	0.85[ASN][1000 genomes]
rs10965323	0.87[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10965337	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10965338	0.82[AMR][1000 genomes]
rs1408334	0.86[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2147264	0.85[ASN][1000 genomes]
rs4741658	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4741662	0.82[AMR][1000 genomes]
rs7040506	0.86[ASN][1000 genomes]
rs7041362	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv892059	chr9:2198627-2255397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1033628	chr9:2215179-2303623	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv539927	chr9:2215179-2303623	Enhancers Weak transcription Active TSS Flanking 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	4 gene(s)	inside rSNPs	diseases
8	nsv892060	chr9:2218129-2261944	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv466078	chr9:2218129-2621030	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv613126	chr9:2218129-2621030	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv6457	chr9:2228493-2271756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv892061	chr9:2229694-2262889	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1029947	chr9:2233969-2364269	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1015332	chr9:2235123-2361722	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1022726	chr9:2235500-2361890	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv539928	chr9:2235500-2361890	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1033537	chr9:2235700-2361750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv539929	chr9:2235700-2361750	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv613127	chr9:2237390-2363874	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2241000-2242800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr9:2241000-2242800	Active TSS	Brain Anterior Caudate	brain
3	chr9:2241000-2243200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:2241200-2242800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:2241200-2242800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:2241200-2242800	Active TSS	Brain Angular Gyrus	brain
7	chr9:2241200-2242800	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr9:2241200-2242800	Flanking Active TSS	HUVEC	blood vessel
9	chr9:2241200-2243000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr9:2241200-2243000	Active TSS	Brain Germinal Matrix	brain
11	chr9:2241200-2243000	Active TSS	Fetal Kidney	kidney
12	chr9:2241200-2243200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:2241400-2242800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:2241400-2242800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr9:2241400-2242800	Active TSS	Aorta	Aorta
16	chr9:2241400-2242800	Flanking Active TSS	Placenta	Placenta
17	chr9:2241400-2242800	Flanking Active TSS	Fetal Thymus	thymus
18	chr9:2241400-2242800	Active TSS	Psoas Muscle	Psoas
19	chr9:2241400-2243000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:2241400-2243000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr9:2241400-2243000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr9:2241400-2243000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:2241400-2243000	Flanking Active TSS	HMEC	breast
24	chr9:2241400-2243200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:2241400-2243200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr9:2241400-2243600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr9:2241600-2242800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr9:2241600-2242800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:2241600-2242800	Active TSS	A549	lung
30	chr9:2241600-2243000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr9:2241600-2243000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:2241600-2243000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr9:2241600-2243000	Active TSS	NHDF-Ad	bronchial
34	chr9:2241600-2243200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr9:2241600-2243400	Active TSS	Rectal Smooth Muscle	rectum
36	chr9:2241600-2243400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr9:2241800-2242800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:2241800-2242800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:2241800-2242800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr9:2241800-2242800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:2241800-2242800	Active TSS	Stomach Mucosa	stomach
42	chr9:2241800-2242800	Flanking Active TSS	HSMM	muscle
43	chr9:2241800-2243000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr9:2241800-2243000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:2241800-2243000	Flanking Active TSS	Dnd41	blood
46	chr9:2242000-2243000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr9:2242200-2242800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr9:2242200-2242800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:2242200-2242800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr9:2242200-2242800	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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