Variant report

Variant	rs57076131
Chromosome Location	chr10:99213464-99213465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99213394-99214557	HL-60	blood:	n/a	n/a
2	POLR2A	chr10:99213296-99214798	Hela-S3	cervix:	n/a	n/a
3	BCL3	chr10:99213293-99214156	A549	lung:	n/a	n/a
4	POLR2A	chr10:99212053-99215603	HL-60	blood:	n/a	n/a
5	POLR2A	chr10:99212513-99214961	HUVEC	blood vessel:	n/a	n/a
6	BCL3	chr10:99212371-99214654	A549	lung:	n/a	chr10:99213054-99213063
7	POLR2A	chr10:99212591-99215059	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr10:99212250-99217294	U87	brain:	n/a	n/a
9	POLR2A	chr10:99213159-99214476	GM19193	blood:	n/a	n/a
10	POLR2A	chr10:99213464-99214549	K562	blood:	n/a	n/a
11	POLR2A	chr10:99213175-99214847	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr10:99213393-99214139	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr10:99213013-99214408	NB4	blood:	n/a	n/a
14	POLR2A	chr10:99212381-99216363	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr10:99213433-99217463	K562	blood:	n/a	n/a
16	POLR2A	chr10:99212032-99214577	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:99213225-99214542	K562	blood:	n/a	n/a
18	POLR2A	chr10:99211242-99214464	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:99211380-99214560	GM12891	blood:	n/a	n/a
20	POLR2A	chr10:99213414-99213539	A549	lung:	n/a	n/a
21	POLR2A	chr10:99213028-99214779	K562	blood:	n/a	n/a
22	POLR2A	chr10:99210737-99217145	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:99212460-99214459	K562	blood:	n/a	n/a
24	POLR2A	chr10:99213047-99214493	HepG2	liver:	n/a	n/a
25	POLR2A	chr10:99213033-99214414	U87	brain:	n/a	n/a
26	POLR2A	chr10:99212417-99214682	U87	brain:	n/a	n/a
27	POLR2A	chr10:99211900-99217133	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:99213124-99213468	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:99211696-99217378	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr10:99212746-99213664	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr10:99213232-99214381	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr10:99212148-99222485	K562	blood:	n/a	n/a
33	POLR2A	chr10:99212340-99217157	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:99213344-99213522	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:99213305-99214802	GM12892	blood:	n/a	n/a
36	POLR2A	chr10:99210570-99214569	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:99212130-99217299	GM12891	blood:	n/a	n/a
38	POLR2A	chr10:99213427-99213633	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:99213134-99213525	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr10:99211087-99214596	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:99210501-99214362	A549	lung:	n/a	n/a
42	POLR2A	chr10:99213033-99214504	U87	brain:	n/a	n/a
43	POLR2A	chr10:99213107-99214652	GM12892	blood:	n/a	n/a
44	POLR2A	chr10:99213343-99214169	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr10:99213303-99213922	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr10:99210540-99217215	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99212427..99214213-chr10:99221571..99223572,2	MCF-7	breast:
2	chr10:99204257..99208828-chr10:99209002..99214217,10	MCF-7	breast:
3	chr10:99204978..99208381-chr10:99211777..99214461,3	MCF-7	breast:
4	chr10:99210968..99213480-chr10:99218444..99221440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC16	TF binding region
ENSG00000155229	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171311	Chromatin interaction

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

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

rs_ID	r²[population]
rs11818837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs29001250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29001264	1.00[EUR][1000 genomes]
rs29001318	1.00[EUR][1000 genomes]
rs29001334	0.96[AFR][1000 genomes];1.00[EUR][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:126 , 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	chr10:99207200-99214800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:99207200-99215200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:99207200-99215400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:99207200-99216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:99207400-99214200	Weak transcription	K562	blood
7	chr10:99207400-99215400	Weak transcription	Colonic Mucosa	Colon
8	chr10:99207400-99215400	Weak transcription	Ovary	ovary
9	chr10:99207400-99216600	Weak transcription	Small Intestine	intestine
10	chr10:99207400-99218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:99207600-99218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:99208000-99227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:99208200-99216800	Weak transcription	Fetal Kidney	kidney
14	chr10:99208800-99216600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:99210000-99214000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:99210000-99214400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:99210000-99220400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:99210000-99223400	Strong transcription	NHLF	lung
19	chr10:99210000-99223600	Strong transcription	A549	lung
20	chr10:99210000-99228800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:99210000-99243800	Strong transcription	Primary T cells from cord blood	blood
22	chr10:99210000-99243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:99210000-99244000	Strong transcription	Fetal Stomach	stomach
24	chr10:99210000-99244200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr10:99210200-99223200	Strong transcription	HepG2	liver
26	chr10:99210200-99223600	Strong transcription	Fetal Intestine Small	intestine
27	chr10:99210200-99229200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:99210200-99243800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:99210400-99214600	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr10:99210400-99223200	Strong transcription	HSMM	muscle
31	chr10:99210400-99243600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr10:99210400-99244800	Strong transcription	Fetal Thymus	thymus
33	chr10:99210600-99213600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:99210600-99214000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:99210600-99214200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:99210600-99230800	Strong transcription	Fetal Brain Female	brain
37	chr10:99210600-99231600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:99210600-99234600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr10:99210600-99238800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:99210600-99239000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:99210600-99241800	Strong transcription	Thymus	Thymus
42	chr10:99210600-99243800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr10:99210600-99244200	Strong transcription	Placenta	Placenta
44	chr10:99210800-99213600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr10:99210800-99213600	Strong transcription	Fetal Lung	lung
46	chr10:99210800-99214400	Weak transcription	Stomach Mucosa	stomach
47	chr10:99210800-99214600	Strong transcription	NHEK	skin
48	chr10:99210800-99216600	Weak transcription	Psoas Muscle	Psoas
49	chr10:99210800-99230800	Strong transcription	GM12878-XiMat	blood
50	chr10:99210800-99239000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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