Variant report

Variant	rs142918187
Chromosome Location	chr10:99472838-99472839
allele	C/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	MAX	chr10:99472582-99475098	HCT-116	colon:	n/a	n/a
2	MXI1	chr10:99472608-99474975	SK-N-SH	brain:	n/a	n/a
3	MAX	chr10:99472699-99475009	A549	lung:	n/a	n/a
4	POLR2A	chr10:99472732-99475279	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr10:99472694-99475894	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:99472651-99475266	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr10:99472591-99480580	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr10:99472621-99475647	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr10:99471308-99485768	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr10:99472639-99475185	HCT-116	colon:	n/a	n/a
11	MAZ	chr10:99472682-99475469	IMR90	lung:	n/a	n/a
12	POLR2A	chr10:99472612-99475161	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr10:99472775-99475124	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr10:99472664-99475455	IMR90	lung:	n/a	n/a
15	ZNF263	chr10:99472767-99475270	HEK293-T-REx	kidney:	n/a	chr10:99473454-99473475 chr10:99473508-99473529 chr10:99473141-99473150 chr10:99473481-99473502

No.	Distal block	Cell Line	Cell type
1	chr10:99471547..99474270-chr10:99495747..99497533,2	K562	blood:
2	chr10:99472472..99476089-chr10:99494153..99498366,9	MCF-7	breast:
3	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:
4	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
5	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
6	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
7	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:

Variant related genes	Relation type
MARVELD1	TF binding region
ENSG00000155256	Chromatin interaction
ENSG00000119986	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3438921	chr10:99472487-99475335	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99471400-99473000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:99471400-99473000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr10:99471600-99473000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:99471600-99473000	Enhancers	Placenta	Placenta
5	chr10:99471800-99473000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:99472000-99473000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:99472000-99473400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:99472000-99474800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:99472400-99473000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:99472400-99473000	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr10:99472400-99473000	Enhancers	Lung	lung
12	chr10:99472400-99473000	Enhancers	Spleen	Spleen
13	chr10:99472600-99473000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:99472600-99473000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr10:99472600-99473000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:99472600-99473000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:99472600-99473000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr10:99472600-99473000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:99472600-99473000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:99472600-99473000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr10:99472600-99473000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr10:99472600-99473000	Enhancers	Ovary	ovary
23	chr10:99472600-99473000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr10:99472600-99473000	Bivalent Enhancer	Thymus	Thymus
25	chr10:99472600-99473000	Flanking Active TSS	NHLF	lung
26	chr10:99472600-99473000	Flanking Active TSS	Osteobl	bone
27	chr10:99472600-99473200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr10:99472600-99473200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr10:99472600-99473200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:99472600-99473200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:99472600-99473200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr10:99472600-99473200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:99472600-99473200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr10:99472600-99473200	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr10:99472600-99473200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:99472600-99473200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr10:99472600-99473200	Flanking Active TSS	Hela-S3	cervix
38	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:99472600-99473800	Enhancers	GM12878-XiMat	blood
41	chr10:99472600-99474600	Active TSS	Fetal Brain Female	brain
42	chr10:99472600-99474800	Active TSS	Fetal Lung	lung
43	chr10:99472600-99475000	Active TSS	Brain Angular Gyrus	brain
44	chr10:99472600-99475000	Active TSS	Fetal Kidney	kidney
45	chr10:99472800-99473000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:99472800-99473000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:99472800-99473000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr10:99472800-99473000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:99472800-99473000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:99472800-99473000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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