Variant report

Variant	rs1317368
Chromosome Location	chr4:8011696-8011697
allele	G/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	NR2F2	chr4:8011662-8012241	MCF-7	breast:	n/a	n/a
2	HNF4A	chr4:8011446-8011737	HepG2	liver:	n/a	chr4:8011669-8011684
3	HNF4A	chr4:8011482-8011785	HepG2	liver:	n/a	chr4:8011669-8011684
4	MXI1	chr4:8011462-8013591	SK-N-SH	brain:	n/a	chr4:8012528-8012543 chr4:8012526-8012541
5	RFX5	chr4:8011448-8013671	SK-N-SH	brain:	n/a	chr4:8011874-8011888

Variant related genes	Relation type
MIR95	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]
rs10023553	0.88[LWK][hapmap];0.91[MKK][hapmap];0.81[AFR][1000 genomes]

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	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv593623	chr4:7991587-8012167	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7998800-8011800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:8003400-8012000	Weak transcription	Gastric	stomach
3	chr4:8005200-8012200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
5	chr4:8007800-8012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
7	chr4:8008600-8012000	Weak transcription	Fetal Heart	heart
8	chr4:8008600-8012400	Weak transcription	Right Ventricle	heart
9	chr4:8009000-8012400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8009200-8012200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:8009400-8012400	Weak transcription	Adipose Nuclei	Adipose
12	chr4:8010000-8012000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:8010400-8015400	Weak transcription	Aorta	Aorta
14	chr4:8010600-8011800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:8010600-8012000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
17	chr4:8010800-8011800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:8011200-8012400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
20	chr4:8011400-8011800	Enhancers	Brain Hippocampus Middle	brain
21	chr4:8011400-8012000	Enhancers	Brain Substantia Nigra	brain
22	chr4:8011400-8012200	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:8011400-8012400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:8011400-8012400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:8011400-8012600	Enhancers	Fetal Muscle Trunk	muscle
26	chr4:8011400-8012800	Enhancers	Pancreas	Pancrea
27	chr4:8011400-8013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:8011400-8013400	Enhancers	Fetal Brain Male	brain
29	chr4:8011400-8013400	Enhancers	Fetal Muscle Leg	muscle
30	chr4:8011400-8013400	Enhancers	Fetal Stomach	stomach
31	chr4:8011600-8011800	Enhancers	Brain Anterior Caudate	brain
32	chr4:8011600-8011800	Enhancers	Fetal Lung	lung
33	chr4:8011600-8012000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:8011600-8012000	Enhancers	Fetal Brain Female	brain
35	chr4:8011600-8012000	Enhancers	Stomach Mucosa	stomach
36	chr4:8011600-8012200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8011600-8012400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:8011600-8012400	Flanking Active TSS	HepG2	liver
39	chr4:8011600-8012600	Enhancers	Duodenum Mucosa	Duodenum
40	chr4:8011600-8012800	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr4:8011600-8013000	Enhancers	Brain Angular Gyrus	brain
42	chr4:8011600-8013200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8011600-8013200	Enhancers	Fetal Intestine Large	intestine

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