Variant report

Variant	rs29001325
Chromosome Location	chr10:99221761-99221762
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99220885-99221965	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:99221451-99222071	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:99221726-99221988	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:99221152-99222127	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr10:99221757-99221945	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:99221065-99221857	U87	brain:	n/a	n/a
7	POLR2A	chr10:99221602-99221987	MCF-7	breast:	n/a	n/a
8	POLR2A	chr10:99221507-99222025	K562	blood:	n/a	n/a
9	POLR2A	chr10:99217425-99222267	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr10:99221645-99222122	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:99219632-99222536	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:99221065-99222056	U87	brain:	n/a	n/a
13	POLR2A	chr10:99217414-99222048	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr10:99220204-99222748	GM12891	blood:	n/a	n/a
15	POLR2A	chr10:99212148-99222485	K562	blood:	n/a	n/a
16	POLR2A	chr10:99217423-99222712	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:99221743-99221982	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:99221015-99222154	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99212427..99214213-chr10:99221571..99223572,2	MCF-7	breast:
2	chr10:99167020..99167837-chr10:99221428..99222089,2	K562	blood:
3	chr10:99204868..99207758-chr10:99220730..99223345,2	MCF-7	breast:
4	chr10:99209876..99212746-chr10:99220453..99223449,3	K562	blood:
5	chr10:99208835..99213296-chr10:99221079..99225191,5	K562	blood:

No data

Variant related genes	Relation type
MMS19	TF binding region
ENSG00000171311	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17112837	1.00[AMR][1000 genomes]
rs28987106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29001273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3814552	1.00[AMR][1000 genomes]
rs59951048	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99206800-99234200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:99208000-99227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:99210000-99223400	Strong transcription	NHLF	lung
4	chr10:99210000-99223600	Strong transcription	A549	lung
5	chr10:99210000-99228800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:99210000-99243800	Strong transcription	Primary T cells from cord blood	blood
7	chr10:99210000-99243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:99210000-99244000	Strong transcription	Fetal Stomach	stomach
9	chr10:99210000-99244200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:99210200-99223200	Strong transcription	HepG2	liver
11	chr10:99210200-99223600	Strong transcription	Fetal Intestine Small	intestine
12	chr10:99210200-99229200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:99210200-99243800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:99210400-99223200	Strong transcription	HSMM	muscle
15	chr10:99210400-99243600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr10:99210400-99244800	Strong transcription	Fetal Thymus	thymus
17	chr10:99210600-99230800	Strong transcription	Fetal Brain Female	brain
18	chr10:99210600-99231600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:99210600-99234600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr10:99210600-99238800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:99210600-99239000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:99210600-99241800	Strong transcription	Thymus	Thymus
23	chr10:99210600-99243800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:99210600-99244200	Strong transcription	Placenta	Placenta
25	chr10:99210800-99230800	Strong transcription	GM12878-XiMat	blood
26	chr10:99210800-99239000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:99210800-99243800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:99210800-99244000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:99210800-99246000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr10:99211000-99230600	Strong transcription	Brain Germinal Matrix	brain
31	chr10:99211000-99231000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr10:99211000-99238800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:99211000-99243800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:99211000-99246400	Strong transcription	Dnd41	blood
35	chr10:99211200-99223400	Strong transcription	Brain Substantia Nigra	brain
36	chr10:99211200-99230800	Strong transcription	Brain Angular Gyrus	brain
37	chr10:99211200-99230800	Strong transcription	Brain Cingulate Gyrus	brain
38	chr10:99211200-99244800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:99211200-99246200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr10:99211200-99246600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:99211400-99223600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr10:99211400-99230800	Strong transcription	Primary B cells from cord blood	blood
43	chr10:99211400-99239000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr10:99211400-99241600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:99211600-99230600	Strong transcription	Spleen	Spleen
46	chr10:99211600-99239000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr10:99211800-99223400	Strong transcription	Brain Hippocampus Middle	brain
48	chr10:99211800-99223800	Strong transcription	Fetal Intestine Large	intestine
49	chr10:99211800-99230800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:99211800-99241200	Strong transcription	Rectal Mucosa Donor 31	rectum

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