Variant report

Variant	rs2139494
Chromosome Location	chr2:76826983-76826984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:206)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:76826910-76827170	A549	lung:	n/a	n/a
2	MAZ	chr2:76826940-76827166	GM12878	blood:	n/a	n/a
3	CTCF	chr2:76826724-76827436	GM12878	blood:	n/a	n/a
4	CTCF	chr2:76826940-76827090	HAc	cerebellar:	n/a	n/a
5	CTCF	chr2:76826980-76827130	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr2:76826917-76827207	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr2:76826960-76827110	HRE	kidney:	n/a	n/a
8	RAD21	chr2:76826846-76827361	HCT-116	colon:	n/a	n/a
9	CTCF	chr2:76826960-76827110	SAEC	small airway:	n/a	n/a
10	CTCF	chr2:76826980-76827130	GM12868	blood:	n/a	n/a
11	BHLHE40	chr2:76826935-76827215	GM12878	blood:	n/a	n/a
12	CTCF	chr2:76826940-76827090	HEK293	kidney:	n/a	n/a
13	CTCF	chr2:76826980-76827130	GM12872	blood:	n/a	n/a
14	CTCF	chr2:76826925-76827140	NHEK	skin:	n/a	n/a
15	CTCF	chr2:76826879-76827200	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:76826940-76827090	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:76826940-76827090	GM12867	blood:	n/a	n/a
18	BHLHE40	chr2:76826921-76827181	K562	blood:	n/a	n/a
19	CTCF	chr2:76826782-76827238	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:76826980-76827130	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr2:76826980-76827130	AG10803	skin:	n/a	n/a
22	CTCF	chr2:76826980-76827130	GM12873	blood:	n/a	n/a
23	RAD21	chr2:76826195-76827701	SK-N-SH	brain:	n/a	n/a
24	FOXP2	chr2:76826909-76827241	SK-N-MC	brain:	n/a	n/a
25	CTCF	chr2:76826699-76827327	MCF-7	breast:	n/a	n/a
26	ARID3A	chr2:76826892-76827267	HepG2	liver:	n/a	n/a
27	CTCF	chr2:76826980-76827130	HPF	lung:	n/a	n/a
28	FOXA2	chr2:76826897-76827227	HepG2	liver:	n/a	n/a
29	CTCF	chr2:76826980-76827130	HFF-Myc	foreskin:	n/a	n/a
30	JUND	chr2:76826814-76827234	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAFK	chr2:76826876-76827173	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr2:76826622-76827643	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr2:76826946-76827150	ProgFib	skin:	n/a	n/a
34	CTCF	chr2:76826940-76827090	NB4	blood:	n/a	n/a
35	CTCF	chr2:76826980-76827130	GM12871	blood:	n/a	n/a
36	CTCF	chr2:76826910-76827146	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:76826960-76827110	GM12801	blood:	n/a	n/a
38	CTCF	chr2:76826964-76827247	A549	lung:	n/a	n/a
39	BRCA1	chr2:76826858-76827249	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOXA1	chr2:76826894-76827226	T-47D	breast:	n/a	n/a
41	RCOR1	chr2:76826886-76827170	GM12878	blood:	n/a	n/a
42	CTCF	chr2:76826980-76827130	GM06990	blood:	n/a	n/a
43	CTCF	chr2:76826980-76827130	HMF	breast:	n/a	n/a
44	CTCF	chr2:76826922-76827161	A549	lung:	n/a	n/a
45	FOS	chr2:76826947-76827147	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr2:76826943-76827173	MCF10A-Er-Src	breast:	n/a	n/a
47	CEBPB	chr2:76826891-76827167	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:76826894-76827232	K562	blood:	n/a	n/a
49	CTCF	chr2:76826962-76827174	Lung_OC	lung:	n/a	n/a
50	CTCF	chr2:76826907-76827230	Pancreas_OC	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:76424788..76425711-chr2:76826568..76827565,9	MCF-7	breast:
2	chr2:76123697..76124563-chr2:76826531..76827162,2	MCF-7	breast:
3	chr2:75957100..75957649-chr2:76826627..76827405,2	MCF-7	breast:
4	chr2:76014514..76015446-chr2:76826422..76827585,4	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SKP164	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10164719	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195080	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10201906	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10211462	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11887831	0.81[ASN][1000 genomes]
rs11887907	0.81[ASN][1000 genomes]
rs11887917	0.81[ASN][1000 genomes]
rs11901609	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392712	0.81[ASN][1000 genomes]
rs13407261	0.88[ASN][1000 genomes]
rs13418079	0.81[ASN][1000 genomes]
rs1519984	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1519997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607656	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1921235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711328	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745112	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1816503	chr2:76776659-76865585	Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1815711	chr2:76777279-76882935	ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1818503	chr2:76777279-76882935	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1817232	chr2:76778258-76882935	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1823889	chr2:76780130-76874809	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1823060	chr2:76784056-76844859	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1824614	chr2:76796148-76860212	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1815539	chr2:76796148-76865585	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1821829	chr2:76796148-76865585	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1821382	chr2:76796561-76859554	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1823332	chr2:76796561-76859554	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1820314	chr2:76796561-76860212	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1816291	chr2:76796561-76870739	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1824084	chr2:76798382-76860128	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv1818817	chr2:76798873-76859557	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv1822508	chr2:76799971-76859557	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3382432	chr2:76800346-76836161	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv1815241	chr2:76806963-76845110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv1816432	chr2:76806963-76845110	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1815862	chr2:76806963-76859486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv1818484	chr2:76807008-76844859	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1817472	chr2:76807163-76861411	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv1823579	chr2:76807163-76862610	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv1820384	chr2:76808036-76856189	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv1818868	chr2:76808036-76860212	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv1823011	chr2:76808036-76860212	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv1822613	chr2:76808048-76845426	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	esv1820074	chr2:76808048-76860212	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv1822086	chr2:76808048-76860212	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	esv1824686	chr2:76808048-76860212	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	esv1821662	chr2:76808454-76862898	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	esv1817192	chr2:76808645-76859554	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
34	esv1822856	chr2:76808645-76859554	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv1815694	chr2:76808645-76860212	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv1820408	chr2:76808645-76860212	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	esv1820515	chr2:76808645-76860212	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	esv1824506	chr2:76808645-76870739	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	esv1818317	chr2:76808645-76874809	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv1819688	chr2:76808847-76847513	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	esv1820258	chr2:76808847-76847513	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
42	esv1823190	chr2:76808847-76847513	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
43	esv1824446	chr2:76808847-76847513	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
44	esv1822258	chr2:76808847-76859554	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
45	esv1816777	chr2:76808847-76865585	Genic enhancers ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
46	esv1816587	chr2:76811778-76844466	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
47	esv1822899	chr2:76811778-76844466	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
48	nsv818053	chr2:76811778-76844466	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
49	esv1818290	chr2:76811778-76859554	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
50	esv1823577	chr2:76811778-76859554	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76817200-76849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76823200-76829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76826200-76827000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:76826400-76827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:76826600-76827400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:76826800-76827000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:76826800-76827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:76826800-76827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:76826800-76827600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:76826800-76827600	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links