Variant report

Variant	rs10229288
Chromosome Location	chr7:4779800-4779801
allele	G/T
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	MXI1	chr7:4778071-4779847	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:4777075-4780827	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:4779354..4780876-chr7:4813776..4815968,2	K562	blood:
2	chr7:4778391..4781100-chr7:4828582..4831115,2	K562	blood:
3	chr7:4679860..4681544-chr7:4777354..4780296,2	K562	blood:
4	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
5	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

Variant related genes	Relation type
FOXK1	TF binding region
ENSG00000164916	Chromatin interaction
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10259917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10275252	1.00[EUR][1000 genomes]
rs10277793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972388	1.00[EUR][1000 genomes]
rs11974526	1.00[EUR][1000 genomes]
rs11981101	1.00[EUR][1000 genomes]
rs28627569	1.00[EUR][1000 genomes]
rs59466288	1.00[EUR][1000 genomes]
rs73305380	1.00[EUR][1000 genomes]
rs73305394	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
2	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:4766000-4783600	Weak transcription	HMEC	breast
5	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:4773400-4780200	Weak transcription	NHEK	skin
7	chr7:4774200-4780400	Weak transcription	Esophagus	oesophagus
8	chr7:4777800-4779800	Enhancers	Primary B cells from cord blood	blood
9	chr7:4777800-4779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:4777800-4780000	Enhancers	Fetal Thymus	thymus
11	chr7:4778000-4779800	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:4778000-4779800	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:4778200-4779800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:4778200-4779800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:4778200-4779800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:4778200-4779800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:4778200-4779800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:4778200-4779800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:4778200-4779800	Enhancers	Fetal Stomach	stomach
20	chr7:4778200-4779800	Enhancers	Right Ventricle	heart
21	chr7:4778200-4779800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:4778200-4779800	Enhancers	Thymus	Thymus
23	chr7:4778200-4780000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:4778800-4780600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:4778800-4782200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:4778800-4782400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:4779000-4779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:4779000-4780400	Weak transcription	Colonic Mucosa	Colon
29	chr7:4779000-4780600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:4779000-4781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4779200-4779800	Enhancers	Spleen	Spleen
32	chr7:4779200-4779800	Strong transcription	Hela-S3	cervix
33	chr7:4779200-4780000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:4779200-4780400	Weak transcription	Brain Germinal Matrix	brain
35	chr7:4779200-4781400	Weak transcription	Fetal Brain Female	brain
36	chr7:4779400-4779800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:4779400-4779800	Enhancers	Left Ventricle	heart
38	chr7:4779400-4780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:4779400-4780200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:4779400-4780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:4779400-4780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:4779400-4780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:4779400-4780600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:4779400-4781200	Weak transcription	GM12878-XiMat	blood
45	chr7:4779400-4782600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:4779400-4783200	Weak transcription	Psoas Muscle	Psoas
47	chr7:4779600-4779800	Enhancers	Primary T cells from cord blood	blood
48	chr7:4779600-4779800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:4779600-4779800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:4779600-4779800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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