Variant report

Variant	rs541951820
Chromosome Location	chr4:8022201-8022202
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr4:8021680-8022221	MCF-7	breast:	n/a	n/a
2	ZNF263	chr4:8021695-8022230	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8022191-8022241	HRPEpiC	eye:	n/a
2	chr4:8022191-8022241	Jurkat	blood:	n/a
3	chr4:8022191-8022241	SK-N-MC	brain:	n/a
4	chr4:8022191-8022241	SK-N-SH_RA	brain:	n/a
5	chr4:8022191-8022241	HEK293	kidney:	embryo
6	chr4:8022191-8022241	HEEpiC	esophagus:	n/a
7	chr4:8022191-8022241	Caco-2	colon:	n/a
8	chr4:8022191-8022241	H1-hESC	embryonic stem cell:	embryo
9	chr4:8022191-8022241	AG04450	lung:	fetal
10	chr4:8022191-8022241	MCF-7	breast:	n/a
11	chr4:8022191-8022241	HIPEpiC	eye:	n/a
12	chr4:8022191-8022241	HepG2	liver:	n/a
13	chr4:8022191-8022241	ovcar-3	ovarian:	n/a
14	chr4:8022191-8022241	HRCEpiC	kidney:	n/a
15	chr4:8022191-8022241	HCF	heart:	n/a
16	chr4:8022191-8022241	LNCaP	prostate:	n/a
17	chr4:8022191-8022241	HCM	heart:	n/a
18	chr4:8022191-8022241	AG09309	skin:	n/a
19	chr4:8022191-8022241	HL-60	blood:	n/a
20	chr4:8022191-8022241	HPAEpiC	pulmonary alveolar:	n/a
21	chr4:8022191-8022241	AG04449	skin:	fetal
22	chr4:8022191-8022241	IMR90	lung:	fetal
23	chr4:8022191-8022241	ProgFib	skin:	n/a
24	chr4:8022191-8022241	ECC-1	luminal epithelium:	n/a
25	chr4:8022191-8022241	AoSMC	blood vessel:	n/a
26	chr4:8022191-8022241	GM12891	blood:	n/a
27	chr4:8022191-8022241	SK-N-SH	brain:	n/a
28	chr4:8022191-8022241	U87	brain:	n/a
29	chr4:8022191-8022241	NH-A	brain:	n/a
30	chr4:8022191-8022241	PFSK-1	brain:	n/a
31	chr4:8022191-8022241	AG09319	gingival:	n/a
32	chr4:8022191-8022241	BJ	skin:	n/a
33	chr4:8022191-8022241	HCT-116	colon:	n/a
34	chr4:8022191-8022241	NHBE	bronchial:	n/a
35	chr4:8022191-8022241	RPTEC	kidney:	n/a
36	chr4:8022191-8022241	BE2_C	brain:	n/a
37	chr4:8022191-8022241	HAEpiC	amniotic membrane:	n/a
38	chr4:8022191-8022241	PANC-1	pancreas:	n/a
39	chr4:8022191-8022241	K562	blood:	n/a
40	chr4:8022191-8022241	NHDF-neo	bronchial:	n/a
41	chr4:8022191-8022241	HRE	kidney:	n/a
42	chr4:8022191-8022241	Hepatocyte	liver:	n/a
43	chr4:8022191-8022241	CMK	blood:	n/a
44	chr4:8022191-8022241	Hela-S3	cervix:	n/a
45	chr4:8022191-8022241	A549	lung:	n/a
46	chr4:8022191-8022241	HNPCEpiC	eye:	n/a
47	chr4:8022191-8022241	GM12878	blood:	n/a
48	chr4:8022191-8022241	NT2-D1	testis:	n/a
49	chr4:8022191-8022241	HCPEpiC	choroid plexus:	n/a
50	chr4:8022191-8022241	HUVEC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8005982..8008973-chr4:8021942..8023511,2	MCF-7	breast:
2	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273267	TF binding region
ENSG00000273267	CpG island
ENSG00000207807	Chromatin interaction
ENSG00000273267	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:30 , 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	chr4:8021000-8022400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:8021000-8022400	Active TSS	Brain Angular Gyrus	brain
13	chr4:8021400-8023200	Enhancers	Brain Germinal Matrix	brain
14	chr4:8021400-8023400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:8021600-8022400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr4:8021800-8022400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:8021800-8025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:8022000-8022400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8022000-8022400	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr4:8022000-8022400	Enhancers	Esophagus	oesophagus
21	chr4:8022000-8022400	Flanking Active TSS	Stomach Mucosa	stomach
22	chr4:8022000-8037600	Weak transcription	Lung	lung
23	chr4:8022200-8022400	Enhancers	Brain Anterior Caudate	brain
24	chr4:8022200-8022400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr4:8022200-8022400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr4:8022200-8022400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr4:8022200-8022400	Bivalent Enhancer	NHEK	skin
28	chr4:8022200-8022800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:8022200-8023600	Enhancers	Brain Hippocampus Middle	brain
30	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain

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