Variant report

Variant	rs372998334
Chromosome Location	chr9:136608176-136608177
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	SMC3	chr9:136608049-136608482	HepG2	liver:	n/a	chr9:136608259-136608266
2	CTCF	chr9:136608139-136608417	GM20000	blood:	n/a	chr9:136608256-136608265
3	POLR2A	chr9:136608139-136608408	HCT-116	colon:	n/a	n/a
4	CTCF	chr9:136608126-136608427	GM10248	blood:	n/a	chr9:136608256-136608265
5	MAX	chr9:136608104-136608424	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr9:136608098-136608439	GM12878	blood:	n/a	chr9:136608166-136608179
7	USF2	chr9:136608120-136608449	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:136608091-136608480	MCF-7	breast:	n/a	chr9:136608256-136608265
9	MAX	chr9:136608087-136608408	GM12878	blood:	n/a	n/a
10	CTCF	chr9:136608126-136608435	Lung_OC	lung:	n/a	chr9:136608256-136608265
11	MAX	chr9:136608150-136608325	K562	blood:	n/a	n/a
12	MXI1	chr9:136608079-136608426	HepG2	liver:	n/a	n/a
13	RAD21	chr9:136607872-136608819	SK-N-SH	brain:	n/a	chr9:136608166-136608179
14	CTCF	chr9:136608115-136608444	GM10266	blood:	n/a	chr9:136608256-136608265
15	CTCF	chr9:136607994-136608512	HepG2	liver:	n/a	chr9:136608256-136608265
16	POLR2A	chr9:136607952-136608426	HepG2	liver:	n/a	n/a
17	USF1	chr9:136608156-136608410	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr9:136607975-136608588	HepG2	liver:	n/a	chr9:136608256-136608265
19	SMC3	chr9:136608088-136608510	GM12878	blood:	n/a	chr9:136608259-136608266
20	CTCF	chr9:136608041-136608460	GM12891	blood:	n/a	chr9:136608256-136608265
21	ELK1	chr9:136608136-136608439	GM12878	blood:	n/a	n/a
22	CTCF	chr9:136608063-136608461	MCF-7	breast:	n/a	chr9:136608256-136608265
23	CTCF	chr9:136608112-136608465	HepG2	liver:	n/a	chr9:136608256-136608265
24	BHLHE40	chr9:136608081-136608427	HepG2	liver:	n/a	n/a
25	ZNF143	chr9:136608006-136608494	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr9:136607951-136608470	HEK293-T-REx	kidney:	n/a	n/a
27	EP300	chr9:136608038-136608384	HepG2	liver:	n/a	n/a
28	CTCF	chr9:136608093-136608463	H1-hESC	embryonic stem cell:	n/a	chr9:136608256-136608265
29	CREB1	chr9:136608122-136608354	A549	lung:	n/a	n/a
30	UBTF	chr9:136608141-136608425	K562	blood:	n/a	n/a
31	CTCF	chr9:136607902-136608476	GM19238	blood:	n/a	chr9:136608256-136608265
32	GTF2F1	chr9:136608161-136608449	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr9:136608001-136608653	MCF-7	breast:	n/a	chr9:136608256-136608265
34	CTCF	chr9:136608075-136608419	ECC-1	luminal epithelium:	n/a	chr9:136608256-136608265
35	RAD21	chr9:136608152-136608470	K562	blood:	n/a	chr9:136608166-136608179
36	ZNF143	chr9:136608098-136608450	K562	blood:	n/a	n/a
37	RAD21	chr9:136608108-136608518	A549	lung:	n/a	chr9:136608166-136608179
38	CTCF	chr9:136608126-136608418	A549	lung:	n/a	chr9:136608256-136608265
39	CTCF	chr9:136608069-136608464	GM19240	blood:	n/a	chr9:136608256-136608265
40	BHLHE40	chr9:136608128-136608200	A549	lung:	n/a	n/a
41	CTCF	chr9:136608160-136608310	GM12871	blood:	n/a	chr9:136608256-136608265
42	CTCF	chr9:136608063-136608476	GM12878	blood:	n/a	chr9:136608256-136608265
43	RAD21	chr9:136608113-136608482	K562	blood:	n/a	chr9:136608166-136608179
44	CTCF	chr9:136608085-136608447	NHEK	skin:	n/a	chr9:136608256-136608265
45	SMC3	chr9:136607499-136608644	SK-N-SH	brain:	n/a	chr9:136608259-136608266
46	ZBTB7A	chr9:136608176-136608417	K562	blood:	n/a	n/a
47	RAD21	chr9:136607970-136608557	HepG2	liver:	n/a	chr9:136608166-136608179
48	CTCF	chr9:136608063-136608453	MCF-7	breast:	n/a	chr9:136608256-136608265
49	CTCF	chr9:136607936-136608471	A549	lung:	n/a	chr9:136608256-136608265
50	CTCF	chr9:136607882-136608591	K562	blood:	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	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
6	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:13 , 50 per page) page: 1

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

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