Variant report

Variant	rs544638395
Chromosome Location	chr4:8023772-8023773
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	chr4:8023680-8023830	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
2	CTCF	chr4:8023640-8023790	HCPEpiC	choroid plexus:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
3	CTCF	chr4:8023685-8023795	GM12892	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
4	CTCF	chr4:8023660-8023810	HMF	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
5	CTCF	chr4:8023631-8023834	A549	lung:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
6	RAD21	chr4:8023485-8024011	A549	lung:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
7	CTCF	chr4:8023640-8023790	WERI-Rb-1	eye:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
8	RAD21	chr4:8023525-8023868	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
9	CTCF	chr4:8023640-8023790	HMF	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
10	RAD21	chr4:8023495-8023855	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
11	MAX	chr4:8023609-8023915	K562	blood:	n/a	n/a
12	CTCF	chr4:8023658-8023811	Fibrobl	skin:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
13	CTCF	chr4:8023660-8023810	AG04449	skin:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
14	BHLHE40	chr4:8023654-8023855	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
15	CTCF	chr4:8023700-8023781	GM12891	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
16	CTCF	chr4:8023640-8023790	HCM	heart:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
17	CTCF	chr4:8023740-8023890	BJ	skin:	n/a	n/a
18	BHLHE40	chr4:8023583-8023853	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
19	MAX	chr4:8023511-8023912	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr4:8023660-8023810	SAEC	small airway:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
21	CTCF	chr4:8023670-8023791	Medullo	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
22	CTCF	chr4:8023632-8023814	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
23	CTCF	chr4:8023643-8023833	Hela-S3	cervix:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
24	CTCF	chr4:8023700-8023850	NB4	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
25	CTCF	chr4:8023633-8023838	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
26	CTCF	chr4:8023573-8023867	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
27	BHLHE40	chr4:8023606-8023917	A549	lung:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
28	CTCF	chr4:8023620-8023828	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
29	RAD21	chr4:8023558-8023829	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
30	RAD21	chr4:8023520-8023876	SK-N-SH_RA	brain:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
31	USF1	chr4:8023677-8023821	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
32	CTCF	chr4:8023660-8023810	HUVEC	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
33	MAZ	chr4:8023733-8023817	HepG2	liver:	n/a	n/a
34	USF2	chr4:8023726-8023912	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
35	CTCF	chr4:8023660-8023810	SK-N-SH_RA	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
36	CTCF	chr4:8023660-8023810	HCT-116	colon:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
37	SMC3	chr4:8023590-8023790	HepG2	liver:	n/a	chr4:8023720-8023728 chr4:8023724-8023731 chr4:8023717-8023731
38	CTCF	chr4:8023640-8023790	AG09309	skin:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
39	CTCF	chr4:8023667-8023791	ProgFib	skin:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
40	CTCF	chr4:8023663-8023781	GM19239	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
41	CTCF	chr4:8023720-8023870	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023730-8023743
42	CTCF	chr4:8023640-8023790	HepG2	liver:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
43	CTCF	chr4:8023640-8023790	HUVEC	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
44	CTCF	chr4:8023680-8023830	Hela-S3	cervix:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
45	RAD21	chr4:8023601-8023867	A549	lung:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
46	CTCF	chr4:8023680-8023830	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
47	BHLHE40	chr4:8023560-8023959	K562	blood:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
48	E2F6	chr4:8023697-8023828	K562	blood:	n/a	n/a
49	CTCF	chr4:8023640-8023790	Caco-2	colon:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
50	CTCF	chr4:8023700-8023850	HEK293	kidney:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000273267	TF binding region
ENSG00000163995	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878582	chr4:8023484-8047973	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878583	chr4:8023484-8049713	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
7	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
8	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
9	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8020800-8024000	Strong transcription	Spleen	Spleen
11	chr4:8021800-8025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8022000-8037600	Weak transcription	Lung	lung
13	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
14	chr4:8022400-8023800	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:8022400-8023800	Enhancers	Brain Substantia Nigra	brain
16	chr4:8022400-8025600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:8022400-8031000	Weak transcription	Esophagus	oesophagus
18	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
19	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
21	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:8023400-8023800	Bivalent Enhancer	HepG2	liver
23	chr4:8023600-8023800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8023600-8024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:8023600-8029200	Weak transcription	Brain Hippocampus Middle	brain

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