Variant report

Variant	rs4075225
Chromosome Location	chr9:5843615-5843616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:5841435..5844037-chr9:5855185..5856765,2	K562	blood:
2	chr9:5841741..5844156-chr9:5895112..5897716,2	K562	blood:
3	chr9:5742733..5745686-chr9:5842987..5845646,2	K562	blood:
4	chr9:5839459..5843654-chr9:5878363..5884455,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120215	Chromatin interaction
ENSG00000223621	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10121480	1.00[CEU][hapmap]
rs10733517	1.00[CEU][hapmap]
rs10733520	1.00[CEU][hapmap]
rs10739079	1.00[CEU][hapmap]
rs10758731	1.00[CEU][hapmap]
rs10758732	1.00[CEU][hapmap]
rs10758734	1.00[CEU][hapmap]
rs10815330	1.00[CEU][hapmap]
rs10815335	1.00[CEU][hapmap]
rs1331378	1.00[CEU][hapmap]
rs1331379	1.00[CEU][hapmap]
rs1418740	1.00[CEU][hapmap]
rs1418746	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16923578	1.00[CEU][hapmap]
rs186913	1.00[CEU][hapmap]
rs2150703	1.00[CEU][hapmap]
rs2244053	1.00[CEU][hapmap]
rs2244058	1.00[CEU][hapmap]
rs2291055	1.00[CEU][hapmap]
rs2381360	1.00[CEU][hapmap]
rs343471	1.00[CEU][hapmap]
rs343480	1.00[CEU][hapmap]
rs343482	1.00[CEU][hapmap]
rs343500	1.00[CEU][hapmap]
rs3739649	1.00[CEU][hapmap]
rs4265236	1.00[CEU][hapmap]
rs4389996	1.00[CEU][hapmap]
rs4395943	1.00[CEU][hapmap]
rs4740833	1.00[CEU][hapmap]
rs4742131	1.00[CEU][hapmap]
rs6477017	1.00[CEU][hapmap]
rs6477024	1.00[CEU][hapmap]
rs7019606	1.00[CEU][hapmap]
rs7021498	1.00[CEU][hapmap]
rs7024130	1.00[CEU][hapmap]
rs7029833	1.00[CEU][hapmap]
rs7030731	1.00[CEU][hapmap]
rs7032130	1.00[CEU][hapmap]
rs7034210	1.00[CEU][hapmap]
rs7042947	1.00[CEU][hapmap]
rs7044750	1.00[CEU][hapmap]
rs7868062	1.00[CEU][hapmap]

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	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3331803	chr9:5766129-5905103	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' 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	42 gene(s)	inside rSNPs	diseases
7	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1016365	chr9:5828435-5850834	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv613203	chr9:5841438-5877948	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5833400-5858000	Weak transcription	Aorta	Aorta
2	chr9:5834200-5843800	Weak transcription	Spleen	Spleen
3	chr9:5834200-5844200	Weak transcription	Brain Substantia Nigra	brain
4	chr9:5834200-5855200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:5834200-5858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:5834200-5858600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:5834400-5886000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:5839000-5843800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:5839000-5853800	Enhancers	Primary hematopoietic stem cells	blood
10	chr9:5839600-5854800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:5839800-5843800	Weak transcription	Gastric	stomach
12	chr9:5839800-5843800	Weak transcription	NHDF-Ad	bronchial
13	chr9:5840000-5843800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:5840400-5844200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr9:5840400-5921600	Weak transcription	Right Ventricle	heart
16	chr9:5840600-5843800	Weak transcription	Esophagus	oesophagus
17	chr9:5840600-5879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:5840800-5846400	Enhancers	Fetal Thymus	thymus
19	chr9:5841000-5846000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:5841400-5845200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr9:5841600-5843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:5841600-5844400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr9:5841800-5844600	Enhancers	Thymus	Thymus
24	chr9:5842000-5844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:5842200-5843800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:5842200-5843800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr9:5842200-5843800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr9:5842200-5844200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr9:5842200-5844400	Enhancers	Primary T cells from cord blood	blood
30	chr9:5842200-5846400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr9:5842200-5846600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:5842400-5843800	Weak transcription	Lung	lung
33	chr9:5842600-5843800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:5842600-5843800	Enhancers	Fetal Kidney	kidney
35	chr9:5842600-5844200	Enhancers	Stomach Mucosa	stomach
36	chr9:5842600-5846200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:5842800-5843800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:5842800-5844000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr9:5842800-5844200	Enhancers	GM12878-XiMat	blood
40	chr9:5842800-5844400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:5842800-5844400	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:5842800-5846600	Enhancers	K562	blood
43	chr9:5843000-5843800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:5843000-5843800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr9:5843000-5844000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:5843000-5844000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:5843000-5844000	Enhancers	Fetal Lung	lung
48	chr9:5843000-5844200	Enhancers	Fetal Intestine Large	intestine
49	chr9:5843000-5844400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:5843000-5844400	Enhancers	Fetal Muscle Leg	muscle

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