Variant report

Variant	rs58161931
Chromosome Location	chr4:7844330-7844331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7828718..7832914-chr4:7842245..7845071,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56125412	1.00[AMR][1000 genomes]
rs58156060	1.00[AMR][1000 genomes]
rs58578559	1.00[AMR][1000 genomes]
rs60252299	1.00[AMR][1000 genomes]
rs73795054	1.00[AMR][1000 genomes]
rs73795057	1.00[AMR][1000 genomes]
rs73795747	1.00[AMR][1000 genomes]
rs73797313	1.00[AMR][1000 genomes]
rs73798024	1.00[AMR][1000 genomes]
rs73798025	1.00[AMR][1000 genomes]
rs73798048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825600-7852200	Weak transcription	Gastric	stomach
3	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
5	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
6	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7830600-7844600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
9	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:7831600-7845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:7832200-7845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:7832200-7845800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:7832600-7845600	Weak transcription	Small Intestine	intestine
22	chr4:7833000-7845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:7833600-7845600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:7833800-7845600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
26	chr4:7834200-7845400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:7834200-7845600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:7834200-7845600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:7834400-7845800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:7835400-7846000	Strong transcription	Fetal Intestine Small	intestine
31	chr4:7836600-7855200	Weak transcription	Fetal Kidney	kidney
32	chr4:7839800-7844400	Weak transcription	Lung	lung
33	chr4:7840200-7845400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:7840400-7844800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:7840600-7844600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:7840600-7853400	Weak transcription	Pancreas	Pancrea
37	chr4:7842000-7845800	Weak transcription	HepG2	liver
38	chr4:7842000-7847600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:7842000-7847600	Weak transcription	Fetal Brain Male	brain
40	chr4:7842600-7844400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:7842800-7844600	Strong transcription	Fetal Intestine Large	intestine
42	chr4:7842800-7844600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:7842800-7844800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:7842800-7844800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:7842800-7845400	Strong transcription	Fetal Brain Female	brain
46	chr4:7842800-7845800	Strong transcription	Brain Germinal Matrix	brain
47	chr4:7842800-7846600	Genic enhancers	Fetal Stomach	stomach
48	chr4:7842800-7847800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr4:7842800-7848000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:7843000-7844600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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