Variant report

Variant	rs4750167
Chromosome Location	chr10:6288869-6288870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:6288773-6289789	SK-N-SH	brain:	n/a	chr10:6289527-6289543
2	POLR2A	chr10:6288639-6293699	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6288204..6291349-chr10:6321853..6323646,3	MCF-7	breast:
2	chr10:6244864..6246634-chr10:6288062..6290633,2	MCF-7	breast:
3	chr10:6284117..6287079-chr10:6288747..6291631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238366	TF binding region
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10795936	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs10906079	1.00[ASW][hapmap];0.91[CEU][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.86[AFR][1000 genomes]
rs11257472	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs7894118	0.91[CEU][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6275800-6291000	Weak transcription	Psoas Muscle	Psoas
2	chr10:6276800-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:6278600-6297600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:6278800-6289400	Weak transcription	Small Intestine	intestine
5	chr10:6278800-6295400	Weak transcription	Pancreas	Pancrea
6	chr10:6278800-6312400	Weak transcription	Thymus	Thymus
7	chr10:6279000-6290200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:6279000-6291600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:6279200-6289400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:6279200-6289400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:6279200-6303400	Weak transcription	Primary T cells from cord blood	blood
12	chr10:6279400-6289000	Weak transcription	Brain Germinal Matrix	brain
13	chr10:6281400-6289000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:6281400-6289400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:6281400-6309200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:6281600-6289200	Weak transcription	HSMMtube	muscle
17	chr10:6281600-6290800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:6282200-6300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:6282800-6289000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:6282800-6289000	Weak transcription	NH-A	brain
21	chr10:6283600-6289600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:6284600-6291000	Weak transcription	Dnd41	blood
23	chr10:6285600-6297600	Weak transcription	Adipose Nuclei	Adipose
24	chr10:6285600-6297800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:6285800-6302000	Weak transcription	Primary B cells from cord blood	blood
26	chr10:6286400-6304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:6286400-6308600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:6286600-6289000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:6286600-6289600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:6286600-6290600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:6286600-6290800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr10:6286600-6293200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:6286600-6297800	Weak transcription	Lung	lung
34	chr10:6286800-6289000	Weak transcription	A549	lung
35	chr10:6287400-6289000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:6287600-6290200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:6287800-6290000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:6288000-6290400	Enhancers	Brain Substantia Nigra	brain
39	chr10:6288600-6289000	Enhancers	Brain Cingulate Gyrus	brain
40	chr10:6288600-6289800	Enhancers	Fetal Kidney	kidney
41	chr10:6288600-6289800	Enhancers	Ovary	ovary
42	chr10:6288600-6290000	Enhancers	Brain Angular Gyrus	brain
43	chr10:6288600-6290200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr10:6288800-6289000	Enhancers	Brain Hippocampus Middle	brain
45	chr10:6288800-6289000	Enhancers	Colon Smooth Muscle	Colon
46	chr10:6288800-6289000	Enhancers	Fetal Muscle Trunk	muscle
47	chr10:6288800-6289200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:6288800-6289200	Bivalent Enhancer	HepG2	liver
49	chr10:6288800-6289400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:6288800-6289400	Genic enhancers	Spleen	Spleen

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