Variant report

Variant	rs563434110
Chromosome Location	chr9:136608000-136608001
allele	C/T
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	chr9:136607892-136608006	GM12891	blood:	n/a	n/a
2	RAD21	chr9:136607872-136608819	SK-N-SH	brain:	n/a	chr9:136608166-136608179
3	CTCF	chr9:136607910-136608014	GM19239	blood:	n/a	n/a
4	CTCF	chr9:136607994-136608512	HepG2	liver:	n/a	chr9:136608256-136608265
5	POLR2A	chr9:136607952-136608426	HepG2	liver:	n/a	n/a
6	CTCF	chr9:136607975-136608588	HepG2	liver:	n/a	chr9:136608256-136608265
7	ZNF263	chr9:136607951-136608470	HEK293-T-REx	kidney:	n/a	n/a
8	CTCF	chr9:136607880-136608030	GM12866	blood:	n/a	n/a
9	CTCF	chr9:136607902-136608476	GM19238	blood:	n/a	chr9:136608256-136608265
10	SMC3	chr9:136607499-136608644	SK-N-SH	brain:	n/a	chr9:136608259-136608266
11	RAD21	chr9:136607970-136608557	HepG2	liver:	n/a	chr9:136608166-136608179
12	CTCF	chr9:136607936-136608471	A549	lung:	n/a	chr9:136608256-136608265
13	CTCF	chr9:136607946-136608016	GM13977	blood:	n/a	n/a
14	CTCF	chr9:136607952-136608013	ProgFib	skin:	n/a	n/a
15	CTCF	chr9:136607882-136608591	K562	blood:	n/a	chr9:136608256-136608265
16	RAD21	chr9:136607954-136608538	MCF-7	breast:	n/a	chr9:136608166-136608179
17	RAD21	chr9:136607937-136608532	ECC-1	luminal epithelium:	n/a	chr9:136608166-136608179
18	RAD21	chr9:136607985-136608523	ECC-1	luminal epithelium:	n/a	chr9:136608166-136608179
19	RAD21	chr9:136607868-136608589	HCT-116	colon:	n/a	chr9:136608166-136608179
20	CTCF	chr9:136607984-136608537	GM12878	blood:	n/a	chr9:136608256-136608265
21	CTCF	chr9:136607878-136608024	GM12892	blood:	n/a	n/a
22	CTCF	chr9:136607852-136608903	A549	lung:	n/a	chr9:136608256-136608265
23	RAD21	chr9:136607944-136608576	H1-hESC	embryonic stem cell:	n/a	chr9:136608166-136608179
24	CTCF	chr9:136607891-136608023	GM19240	blood:	n/a	n/a
25	CTCF	chr9:136607959-136608523	A549	lung:	n/a	chr9:136608256-136608265
26	CTCF	chr9:136607962-136608566	H1-hESC	embryonic stem cell:	n/a	chr9:136608256-136608265
27	CTCF	chr9:136607925-136608008	Gliobla	brain:	n/a	n/a
28	CTCF	chr9:136607860-136608010	GM12867	blood:	n/a	n/a
29	CTCF	chr9:136607860-136608610	MCF-7	breast:	n/a	chr9:136608256-136608265
30	RAD21	chr9:136607945-136608588	H1-hESC	embryonic stem cell:	n/a	chr9:136608166-136608179
31	CTCF	chr9:136607985-136608552	H1-hESC	embryonic stem cell:	n/a	chr9:136608256-136608265
32	CTCF	chr9:136607803-136608603	HCT-116	colon:	n/a	chr9:136608256-136608265
33	GABPA	chr9:136607981-136608532	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr9:136607923-136608687	MCF-7	breast:	n/a	chr9:136608166-136608179
35	YY1	chr9:136607972-136608480	HepG2	liver:	n/a	chr9:136608060-136608074
36	RAD21	chr9:136607921-136608633	HepG2	liver:	n/a	chr9:136608166-136608179
37	CTCF	chr9:136607669-136608774	SK-N-SH	brain:	n/a	chr9:136608256-136608265
38	RAD21	chr9:136607909-136608638	H1-hESC	embryonic stem cell:	n/a	chr9:136608166-136608179
39	RAD21	chr9:136607969-136608513	SK-N-SH_RA	brain:	n/a	chr9:136608166-136608179
40	CTCF	chr9:136607965-136608550	K562	blood:	n/a	chr9:136608256-136608265
41	RAD21	chr9:136607810-136608735	HCT-116	colon:	n/a	chr9:136608166-136608179
42	HNF4A	chr9:136607991-136608501	HepG2	liver:	n/a	n/a
43	CTCF	chr9:136607726-136608786	HCT-116	colon:	n/a	chr9:136608256-136608265

No.	Distal block	Cell Line	Cell type
1	chr9:136607693..136608878-chr9:136859235..136860612,8	MCF-7	breast:
2	chr9:136606377..136608314-chr9:136856987..136859928,3	MCF-7	breast:
3	chr9:136606898..136609884-chr9:136619797..136622653,2	MCF-7	breast:
4	chr9:136607827..136608773-chr9:136859602..136860351,4	MCF-7	breast:
5	chr9:136600827..136603339-chr9:136606377..136608244,2	K562	blood:

Variant related genes	Relation type
SARDH	TF binding region
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv894108	chr9:136507473-136617292	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1049434	chr9:136529766-136618314	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1049281	chr9:136535471-136617805	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv894115	chr9:136571089-136617292	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv894116	chr9:136572021-136608669	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3429780	chr9:136607447-136628052	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv8577	chr9:136607798-136621845	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136604000-136608000	Weak transcription	Fetal Lung	lung
2	chr9:136604000-136608000	Weak transcription	Pancreas	Pancrea
3	chr9:136605400-136610000	Enhancers	Liver	Liver
4	chr9:136606600-136610600	Weak transcription	Fetal Intestine Small	intestine
5	chr9:136606800-136608200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:136607800-136608000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:136607800-136608000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr9:136607800-136608000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr9:136607800-136608200	Flanking Active TSS	HepG2	liver
10	chr9:136607800-136608400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr9:136608000-136608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:136608000-136608200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:136608000-136608200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:136608000-136608200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:136608000-136608200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:136608000-136608200	Enhancers	Pancreas	Pancrea
17	chr9:136608000-136608400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:136608000-136608400	Enhancers	Fetal Lung	lung

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