Variant report

Variant	rs555811799
Chromosome Location	chr10:99473088-99473089
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99472861-99474882	MCF-7	breast:	n/a	n/a
2	POLR2A	chr10:99472884-99473639	HCT-116	colon:	n/a	n/a
3	GABPA	chr10:99473040-99473407	H1-hESC	embryonic stem cell:	n/a	chr10:99473155-99473164
4	POLR2A	chr10:99473058-99475334	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:99473078-99474878	GM18505	blood:	n/a	n/a
6	POLR2A	chr10:99472984-99475112	ProgFib	skin:	n/a	n/a
7	MAX	chr10:99472582-99475098	HCT-116	colon:	n/a	n/a
8	SIN3AK20	chr10:99472978-99474860	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr10:99473033-99473569	SK-N-MC	brain:	n/a	n/a
10	MXI1	chr10:99472608-99474975	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr10:99473050-99474816	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:99473065-99473623	Hela-S3	cervix:	n/a	n/a
13	E2F1	chr10:99473031-99474540	Hela-S3	cervix:	n/a	chr10:99473079-99473091
14	CTCF	chr10:99473020-99473170	HFF	foreskin:	n/a	n/a
15	MAX	chr10:99472952-99474910	Hela-S3	cervix:	n/a	n/a
16	YY1	chr10:99472980-99473566	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr10:99472968-99473626	A549	lung:	n/a	chr10:99473079-99473091
18	HA-E2F1	chr10:99473021-99474637	Hela-S3	cervix:	n/a	chr10:99473079-99473091
19	MAX	chr10:99472699-99475009	A549	lung:	n/a	n/a
20	TAF1	chr10:99473088-99473577	SK-N-SH	brain:	n/a	n/a
21	GTF2F1	chr10:99473063-99473188	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr10:99473069-99474795	A549	lung:	n/a	n/a
23	POLR2A	chr10:99472988-99475081	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr10:99472732-99475279	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr10:99472978-99473604	PANC-1	pancreas:	n/a	n/a
26	MAX	chr10:99473052-99475143	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr10:99473001-99475185	Hela-S3	cervix:	n/a	n/a
28	MAX	chr10:99472992-99474892	A549	lung:	n/a	n/a
29	POLR2A	chr10:99472694-99475894	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr10:99472651-99475266	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr10:99472952-99475026	U87	brain:	n/a	n/a
32	POLR2A	chr10:99473053-99474523	A549	lung:	n/a	n/a
33	POLR2A	chr10:99472897-99474890	HCT-116	colon:	n/a	n/a
34	POLR2A	chr10:99472591-99480580	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:99472621-99475647	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr10:99471308-99485768	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr10:99472850-99474958	A549	lung:	n/a	n/a
38	MAX	chr10:99472639-99475185	HCT-116	colon:	n/a	n/a
39	POLR2A	chr10:99473044-99473604	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr10:99472682-99475469	IMR90	lung:	n/a	n/a
41	TBP	chr10:99472931-99473457	H1-hESC	embryonic stem cell:	n/a	n/a
42	SMARCB1	chr10:99472841-99475146	Hela-S3	cervix:	n/a	n/a
43	MAX	chr10:99473061-99474492	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr10:99473078-99474916	Gliobla	brain:	n/a	n/a
45	SIN3A	chr10:99472978-99475747	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr10:99473067-99473575	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr10:99473013-99474806	SK-N-SH	brain:	n/a	n/a
48	YY1	chr10:99473068-99473333	GM12892	blood:	n/a	n/a
49	POLR2A	chr10:99473061-99473606	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr10:99472612-99475161	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99473085-99473135	NB4	blood:	n/a
2	chr10:99473085-99473135	HIPEpiC	eye:	n/a
3	chr10:99473085-99473135	IMR90	lung:	fetal
4	chr10:99473085-99473135	H1-hESC	embryonic stem cell:	embryo
5	chr10:99473085-99473135	GM12891	blood:	n/a
6	chr10:99473085-99473135	MCF10A-Er-Src	breast:	n/a
7	chr10:99473085-99473135	HepG2	liver:	n/a
8	chr10:99473085-99473135	NT2-D1	testis:	n/a
9	chr10:99473085-99473135	HRPEpiC	eye:	n/a
10	chr10:99473085-99473135	HCM	heart:	n/a
11	chr10:99473085-99473135	PANC-1	pancreas:	n/a
12	chr10:99473085-99473135	AG09319	gingival:	n/a
13	chr10:99473085-99473135	AG10803	skin:	n/a
14	chr10:99473085-99473135	HMEC	breast:	n/a
15	chr10:99473085-99473135	SK-N-SH_RA	brain:	n/a
16	chr10:99473085-99473135	Hela-S3	cervix:	n/a
17	chr10:99473085-99473135	SK-N-SH	brain:	n/a
18	chr10:99473085-99473135	GM12892	blood:	n/a
19	chr10:99473085-99473135	AG04449	skin:	fetal
20	chr10:99473085-99473135	AG09309	skin:	n/a
21	chr10:99473085-99473135	PFSK-1	brain:	n/a
22	chr10:99473085-99473135	GM06990	blood:	n/a
23	chr10:99473085-99473135	MCF-7	breast:	n/a
24	chr10:99473085-99473135	K562	blood:	n/a
25	chr10:99473085-99473135	Jurkat	blood:	n/a
26	chr10:99473085-99473135	HAEpiC	amniotic membrane:	n/a
27	chr10:99473085-99473135	HCPEpiC	choroid plexus:	n/a
28	chr10:99473085-99473135	LNCaP	prostate:	n/a
29	chr10:99473085-99473135	Hepatocyte	liver:	n/a
30	chr10:99473085-99473135	T-47D	breast:	n/a
31	chr10:99473085-99473135	HUVEC	blood vessel:	n/a
32	chr10:99473085-99473135	RPTEC	kidney:	n/a
33	chr10:99473085-99473135	BE2_C	brain:	n/a
34	chr10:99473085-99473135	ovcar-3	ovarian:	n/a
35	chr10:99473085-99473135	NHBE	bronchial:	n/a
36	chr10:99473085-99473135	GM12878	blood:	n/a
37	chr10:99473085-99473135	BJ	skin:	n/a
38	chr10:99473085-99473135	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:99473085-99473135	GM19239	blood:	n/a
40	chr10:99473085-99473135	ECC-1	luminal epithelium:	n/a
41	chr10:99473085-99473135	ProgFib	skin:	n/a
42	chr10:99473085-99473135	HEK293	kidney:	embryo
43	chr10:99473085-99473135	HNPCEpiC	eye:	n/a
44	chr10:99473085-99473135	HL-60	blood:	n/a
45	chr10:99473085-99473135	SK-N-MC	brain:	n/a
46	chr10:99473085-99473135	SKMC	muscle:	n/a
47	chr10:99473085-99473135	SAEC	small airway:	n/a
48	chr10:99473085-99473135	NHDF-neo	bronchial:	n/a
49	chr10:99473085-99473135	Caco-2	colon:	n/a
50	chr10:99473085-99473135	HCT-116	colon:	n/a

(count:8 , 50 per page) page: 1

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	chr10:99257277..99258845-chr10:99472952..99474913,2	MCF-7	breast:
7	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
8	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:

No data

Variant related genes	Relation type
MARVELD1	TF binding region
MARVELD1	CpG island
ENSG00000119986	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000165886	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99472000-99473400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr10:99472000-99474800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr10:99472600-99473200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr10:99472600-99473200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr10:99472600-99473200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:99472600-99473200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:99472600-99473200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr10:99472600-99473200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:99472600-99473200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr10:99472600-99473200	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr10:99472600-99473200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:99472600-99473200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr10:99472600-99473200	Flanking Active TSS	Hela-S3	cervix
14	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:99472600-99473800	Enhancers	GM12878-XiMat	blood
17	chr10:99472600-99474600	Active TSS	Fetal Brain Female	brain
18	chr10:99472600-99474800	Active TSS	Fetal Lung	lung
19	chr10:99472600-99475000	Active TSS	Brain Angular Gyrus	brain
20	chr10:99472600-99475000	Active TSS	Fetal Kidney	kidney
21	chr10:99472800-99473200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:99472800-99473200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:99472800-99473200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:99472800-99473200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:99472800-99473200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:99472800-99473200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:99472800-99473200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr10:99472800-99473200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:99472800-99473200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:99472800-99473200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr10:99472800-99473200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr10:99472800-99473200	Enhancers	Liver	Liver
33	chr10:99472800-99473200	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr10:99472800-99473200	Flanking Active TSS	Fetal Heart	heart
35	chr10:99472800-99473200	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr10:99472800-99473200	Flanking Active TSS	Fetal Stomach	stomach
37	chr10:99472800-99473200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr10:99472800-99473200	Flanking Active TSS	A549	lung
39	chr10:99472800-99473200	Flanking Active TSS	HSMMtube	muscle
40	chr10:99472800-99473200	Flanking Active TSS	HUVEC	blood vessel
41	chr10:99472800-99473200	Flanking Active TSS	NHEK	skin
42	chr10:99472800-99473400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:99472800-99473400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:99472800-99473400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:99472800-99473400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:99472800-99473400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:99472800-99473400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr10:99472800-99473400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr10:99472800-99473400	Enhancers	Fetal Brain Male	brain
50	chr10:99472800-99473400	Flanking Active TSS	Fetal Muscle Trunk	muscle

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