Variant report

Variant	rs7980297
Chromosome Location	chr12:44920565-44920566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:44920500-44920650	NB4	blood:	n/a	n/a
2	CTCF	chr12:44920560-44920710	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:44920440-44920590	BE2_C	brain:	n/a	n/a
4	CTCF	chr12:44920480-44920630	AG04449	skin:	n/a	n/a
5	CTCF	chr12:44920520-44920670	AG04450	lung:	n/a	n/a
6	CTCF	chr12:44920560-44920710	GM12871	blood:	n/a	n/a
7	CTCF	chr12:44920500-44920650	RPTEC	kidney:	n/a	n/a
8	CTCF	chr12:44920540-44920690	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr12:44920460-44920610	GM12864	blood:	n/a	n/a
10	CTCF	chr12:44920540-44920690	NHEK	skin:	n/a	n/a
11	CTCF	chr12:44920520-44920670	Caco-2	colon:	n/a	n/a
12	CTCF	chr12:44920553-44920635	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr12:44920500-44920650	GM12868	blood:	n/a	n/a
14	CTCF	chr12:44920440-44920590	A549	lung:	n/a	n/a
15	CTCF	chr12:44920480-44920630	GM12865	blood:	n/a	n/a
16	CTCF	chr12:44920500-44920650	GM12867	blood:	n/a	n/a
17	CTCF	chr12:44920560-44920710	HCT-116	colon:	n/a	n/a
18	CTCF	chr12:44920500-44920650	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr12:44920500-44920650	GM12872	blood:	n/a	n/a
20	CTCF	chr12:44920520-44920670	GM12869	blood:	n/a	n/a
21	CTCF	chr12:44920540-44920690	GM12871	blood:	n/a	n/a
22	CTCF	chr12:44920540-44920690	GM12873	blood:	n/a	n/a
23	CTCF	chr12:44920420-44920570	A549	lung:	n/a	n/a
24	CTCF	chr12:44920480-44920630	GM06990	blood:	n/a	n/a
25	CTCF	chr12:44920520-44920670	GM06990	blood:	n/a	n/a
26	CTCF	chr12:44920480-44920630	GM12866	blood:	n/a	n/a
27	CTCF	chr12:44920540-44920690	GM12875	blood:	n/a	n/a
28	CTCF	chr12:44920520-44920670	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr12:44920520-44920670	HepG2	liver:	n/a	n/a
30	CTCF	chr12:44920526-44920640	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:44920500-44920650	GM12870	blood:	n/a	n/a
32	CTCF	chr12:44920520-44920670	GM12868	blood:	n/a	n/a
33	RAD21	chr12:44920476-44920758	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr12:44920440-44920590	GM12864	blood:	n/a	n/a
35	CTCF	chr12:44920540-44920690	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:44920540-44920665	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:44920460-44920610	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr12:44920460-44920610	HMEC	breast:	n/a	n/a
39	CTCF	chr12:44920480-44920630	GM12864	blood:	n/a	n/a
40	CTCF	chr12:44920520-44920670	GM12874	blood:	n/a	n/a
41	CTCF	chr12:44920500-44920650	GM12878	blood:	n/a	n/a
42	CTCF	chr12:44920540-44920690	HAc	cerebellar:	n/a	n/a
43	CTCF	chr12:44920540-44920690	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr12:44920521-44920668	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr12:44920521-44920631	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:44920500-44920650	GM12873	blood:	n/a	n/a
47	CTCF	chr12:44920540-44920690	RPTEC	kidney:	n/a	n/a
48	CTCF	chr12:44920500-44920650	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:44920540-44920690	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44915427..44917859-chr12:44918192..44921141,3	K562	blood:

No data

Variant related genes	Relation type
NELL2	TF binding region
ENSG00000184613	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10506246	0.90[MEX][hapmap]
rs1527319	0.90[MEX][hapmap]
rs1798021	0.90[MEX][hapmap]
rs66804469	0.82[ASN][1000 genomes]
rs840771	0.82[ASW][hapmap];0.90[MEX][hapmap]
rs9738577	0.90[MEX][hapmap]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44901800-44926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:44902600-44926200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:44904600-44936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:44904800-44925600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44909200-44939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:44912200-44932400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44912600-44925200	Weak transcription	Fetal Brain Male	brain
8	chr12:44913200-44922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44914000-44921600	Weak transcription	Fetal Brain Female	brain
10	chr12:44915800-44924200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:44916000-44924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:44916000-44924400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:44916000-44930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:44918800-44921200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:44919800-44928400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:44920000-44925200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:44920000-44925200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:44920200-44925200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:44920200-44925200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:44920200-44925600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:44920400-44921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:44920400-44925000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:44920400-44925000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:44920400-44925000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:44920400-44926800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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