Variant report

Variant	rs9990943
Chromosome Location	chr4:8017124-8017125
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	RAD21	chr4:8017084-8017684	HCT-116	colon:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
2	SMC3	chr4:8016931-8017794	SK-N-SH	brain:	n/a	chr4:8017460-8017467 chr4:8017394-8017404 chr4:8017453-8017467
3	CTCF	chr4:8017020-8017170	NHEK	skin:	n/a	n/a
4	RAD21	chr4:8017029-8017741	SK-N-SH	brain:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263

Variant related genes	Relation type
ABLIM2	TF binding region

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

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

rs_ID	r²[population]
rs16841570	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
2	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
3	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
4	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
5	chr4:8012400-8039000	Weak transcription	Gastric	stomach
6	chr4:8012800-8017200	Weak transcription	Right Atrium	heart
7	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
8	chr4:8013000-8020600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:8013000-8021400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
11	chr4:8013200-8017200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:8013200-8018200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:8013200-8020400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:8013200-8020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:8013400-8017200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:8014000-8017200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:8015400-8018000	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
20	chr4:8016600-8021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8016800-8017400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:8017000-8017200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:8017000-8017200	Active TSS	Brain Substantia Nigra	brain
24	chr4:8017000-8017200	Active TSS	HepG2	liver
25	chr4:8017000-8017400	Enhancers	Brain Anterior Caudate	brain
26	chr4:8017000-8017400	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:8017000-8017400	Enhancers	Fetal Heart	heart
28	chr4:8017000-8017400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:8017000-8017400	Enhancers	A549	lung
30	chr4:8017000-8017400	Flanking Bivalent TSS/Enh	Osteobl	bone
31	chr4:8017000-8017600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:8017000-8017600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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