Variant report

Variant	rs549710242
Chromosome Location	chr2:10441922-10441923
allele	A/C
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	POLR2A	chr2:10441852-10444651	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr2:10441102-10442492	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:10441735-10443554	K562	blood:	n/a	n/a
4	RCOR1	chr2:10441746-10441946	K562	blood:	n/a	n/a
5	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
6	MAX	chr2:10440682-10444624	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
7	POLR2A	chr2:10441906-10443455	Raji	blood:	n/a	n/a
8	MYBL2	chr2:10441021-10443695	HepG2	liver:	n/a	n/a
9	MAZ	chr2:10441376-10441992	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:10441016-10443943	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:10441120-10442911	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:10441505-10443270	K562	blood:	n/a	n/a
13	MBD4	chr2:10440973-10441963	HepG2	liver:	n/a	n/a
14	MAX	chr2:10441745-10444932	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
15	MXI1	chr2:10441040-10446748	SK-N-SH	brain:	n/a	chr2:10443806-10443815 chr2:10443808-10443817 chr2:10441998-10442013
16	CHD2	chr2:10441429-10441922	HepG2	liver:	n/a	n/a
17	MYBL2	chr2:10441007-10443089	HepG2	liver:	n/a	n/a
18	MAX	chr2:10440984-10445011	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
19	POLR2A	chr2:10441113-10442879	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:10441116-10442876	HepG2	liver:	n/a	n/a
21	TEAD4	chr2:10441007-10441969	HepG2	liver:	n/a	n/a
22	HEY1	chr2:10440976-10443359	HepG2	liver:	n/a	chr2:10442577-10442592 chr2:10442848-10442863
23	TAF1	chr2:10441185-10442005	HepG2	liver:	n/a	n/a
24	JUN	chr2:10441863-10443361	K562	blood:	n/a	chr2:10441970-10441979
25	MBD4	chr2:10440931-10442910	HepG2	liver:	n/a	n/a
26	RUNX3	chr2:10441915-10442295	GM12878	blood:	n/a	chr2:10442139-10442156
27	MAX	chr2:10441727-10441981	NB4	blood:	n/a	n/a
28	POLR2A	chr2:10441219-10441941	HepG2	liver:	n/a	n/a
29	HNF4G	chr2:10441234-10441964	HepG2	liver:	n/a	chr2:10441460-10441474 chr2:10441477-10441485 chr2:10441459-10441474 chr2:10441467-10441482 chr2:10441459-10441474 chr2:10441459-10441474
30	NFIC	chr2:10440966-10442231	HepG2	liver:	n/a	n/a
31	FOSL2	chr2:10441144-10442431	HepG2	liver:	n/a	chr2:10441970-10441979
32	YY1	chr2:10441199-10442018	HepG2	liver:	n/a	n/a
33	CTCF	chr2:10441840-10441990	K562	blood:	n/a	n/a
34	POLR2A	chr2:10441194-10443568	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10424782..10426457-chr2:10440963..10442554,2	K562	blood:
2	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
3	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
4	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
5	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
6	chr2:10426724..10428299-chr2:10440170..10442093,2	K562	blood:
7	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
8	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
9	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
10	chr2:10441262..10442820-chr2:10525916..10527574,2	MCF-7	breast:
11	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
12	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
13	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:
14	chr2:10183111..10185258-chr2:10441327..10442852,2	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000171848	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000206898	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3356298	chr2:10441526-10444374	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:10438400-10442000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:10438400-10442000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:10438600-10442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:10438600-10442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:10438600-10442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10438600-10442000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:10438600-10442000	Weak transcription	Dnd41	blood
10	chr2:10438600-10442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:10438600-10442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:10438600-10442200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:10438600-10442200	Weak transcription	Psoas Muscle	Psoas
14	chr2:10438600-10442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:10438800-10442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:10438800-10442000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:10438800-10442000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:10438800-10442200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:10438800-10442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:10438800-10442200	Weak transcription	HMEC	breast
21	chr2:10438800-10442200	Weak transcription	HSMMtube	muscle
22	chr2:10438800-10442200	Weak transcription	NHDF-Ad	bronchial
23	chr2:10438800-10442200	Weak transcription	NHEK	skin
24	chr2:10438800-10442200	Weak transcription	Osteobl	bone
25	chr2:10438800-10442600	Weak transcription	NHLF	lung
26	chr2:10439000-10442000	Weak transcription	HUVEC	blood vessel
27	chr2:10439000-10442200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:10439000-10442400	Weak transcription	HSMM	muscle
29	chr2:10439000-10442400	Weak transcription	NH-A	brain
30	chr2:10440600-10442000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:10440600-10442000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:10440600-10442000	Enhancers	A549	lung
33	chr2:10440600-10442200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:10440600-10442200	Enhancers	Fetal Thymus	thymus
35	chr2:10440800-10442000	Enhancers	Primary B cells from cord blood	blood
36	chr2:10440800-10442000	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:10440800-10442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:10440800-10442000	Enhancers	K562	blood
39	chr2:10441000-10442000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:10441000-10442000	Enhancers	Thymus	Thymus
41	chr2:10441000-10442200	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:10441000-10442400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr2:10441000-10442400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:10441000-10442600	Enhancers	Stomach Mucosa	stomach
45	chr2:10441200-10442000	Weak transcription	Small Intestine	intestine
46	chr2:10441200-10442000	Enhancers	Hela-S3	cervix
47	chr2:10441200-10442200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:10441200-10442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:10441200-10442200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:10441200-10442400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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