Variant report

Variant	rs62439135
Chromosome Location	chr7:3129156-3129157
allele	A/G
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	CTCF	chr7:3128912-3129696	A549	lung:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
2	CTCF	chr7:3129112-3129417	K562	blood:	n/a	chr7:3129314-3129323 chr7:3129243-3129252
3	ZNF143	chr7:3129132-3129437	K562	blood:	n/a	n/a
4	CTCF	chr7:3129020-3129170	NHEK	skin:	n/a	n/a
5	CTCF	chr7:3129069-3129560	H1-hESC	embryonic stem cell:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
6	CTCF	chr7:3129113-3129517	K562	blood:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
7	RAD21	chr7:3129142-3129463	HepG2	liver:	n/a	n/a
8	CTCF	chr7:3129127-3129506	HepG2	liver:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
9	SMC3	chr7:3128994-3129783	SK-N-SH	brain:	n/a	chr7:3129016-3129030
10	SMC3	chr7:3129144-3129471	GM12878	blood:	n/a	n/a
11	RAD21	chr7:3128685-3129786	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr7:3129080-3129230	GM06990	blood:	n/a	n/a
13	CTCF	chr7:3129122-3129505	GM12878	blood:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
14	RAD21	chr7:3129152-3129465	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:3128924-3129705	SK-N-SH	brain:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
16	CTCF	chr7:3129038-3129452	K562	blood:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
17	RAD21	chr7:3129109-3129576	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:3129122-3129420	K562	blood:	n/a	chr7:3129314-3129323 chr7:3129243-3129252
19	CTCF	chr7:3129135-3129420	H1-hESC	embryonic stem cell:	n/a	chr7:3129314-3129323 chr7:3129243-3129252
20	YY1	chr7:3129141-3129496	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:3129156-3129441	T-47D	breast:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
22	RAD21	chr7:3129117-3129515	A549	lung:	n/a	n/a
23	CTCF	chr7:3129053-3129450	A549	lung:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
24	CTCF	chr7:3129143-3129441	A549	lung:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
25	RAD21	chr7:3129021-3129588	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr7:3129140-3129290	GM12801	blood:	n/a	chr7:3129243-3129252
27	TEAD4	chr7:3129052-3129545	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr7:3129003-3129528	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr7:3129154-3129436	GM12878	blood:	n/a	n/a
30	RAD21	chr7:3129151-3129448	HepG2	liver:	n/a	n/a
31	RAD21	chr7:3129109-3129459	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr7:3129058-3129597	MCF-7	breast:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
33	RAD21	chr7:3128953-3129550	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr7:3129062-3129520	MCF-7	breast:	n/a	n/a
35	RAD21	chr7:3129106-3129607	A549	lung:	n/a	n/a
36	YY1	chr7:3129057-3129491	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr7:3129036-3129535	H1-hESC	embryonic stem cell:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252
38	CTCF	chr7:3129020-3129170	HRE	kidney:	n/a	n/a
39	ZNF143	chr7:3129140-3129502	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr7:3129127-3129494	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:3129009-3129635	MCF-7	breast:	n/a	chr7:3129314-3129323 chr7:3129415-3129423 chr7:3129243-3129252

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3128837..3129871-chr7:3239803..3240577,4	MCF-7	breast:
2	chr7:2926599..2927259-chr7:3129024..3129578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228334	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57890225	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887319	chr7:3099853-3134593	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv887320	chr7:3110446-3134593	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv605875	chr7:3117801-3134593	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1020680	chr7:3125512-3204521	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1027945	chr7:3125512-3208071	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3123000-3130200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:3126800-3131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:3128800-3129400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3128800-3129600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:3128800-3129600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:3128800-3131400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr7:3128800-3131600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:3128800-3131600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:3128800-3132200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:3128800-3134200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:3128800-3134400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:3129000-3131200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:3129000-3131800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:3129000-3131800	Enhancers	Primary T helper cells fromperipheralblood	blood

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