Variant report

Variant	rs58454418
Chromosome Location	chr4:8052155-8052156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
2	chr4:8048107..8050691-chr4:8051962..8053661,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10020078	1.00[ASN][1000 genomes]
rs10020169	1.00[ASN][1000 genomes]
rs16841640	1.00[ASN][1000 genomes]
rs28416479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535319	1.00[ASN][1000 genomes]
rs4696741	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55932143	1.00[ASN][1000 genomes]
rs56192722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57007308	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57147516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58061467	1.00[ASN][1000 genomes]
rs58733360	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59070213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59525928	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624370	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074033	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73074034	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074035	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73074036	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074038	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv878587	chr4:8031471-8075134	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878588	chr4:8034772-8070793	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv878589	chr4:8034772-8089598	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Flanking Active 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	3 gene(s)	inside rSNPs	diseases
14	nsv878590	chr4:8047973-8075134	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8039200-8057000	Weak transcription	Gastric	stomach
2	chr4:8039400-8052400	Weak transcription	Pancreas	Pancrea
3	chr4:8039400-8056600	Weak transcription	Aorta	Aorta
4	chr4:8041200-8052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8047800-8052200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:8047800-8052200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:8047800-8054800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8048600-8054800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:8049000-8053400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:8049200-8054200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:8049400-8052800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:8049400-8054000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:8049600-8053000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:8049600-8054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:8049800-8052400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:8050000-8052800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:8050200-8052800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:8050600-8052800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:8050800-8053000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:8051000-8053400	Enhancers	Fetal Lung	lung
21	chr4:8051200-8054600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:8051200-8054600	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:8051400-8052400	Weak transcription	Fetal Brain Female	brain
24	chr4:8051400-8052400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:8051600-8052600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8051600-8053800	Enhancers	Fetal Heart	heart
27	chr4:8051600-8054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:8051600-8054600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8051600-8054600	Enhancers	Brain Anterior Caudate	brain
30	chr4:8051800-8052200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:8051800-8052400	Flanking Active TSS	HepG2	liver
32	chr4:8051800-8052600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr4:8051800-8052600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr4:8051800-8052800	Genic enhancers	Spleen	Spleen
35	chr4:8052000-8052200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:8052000-8052200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:8052000-8052200	Enhancers	Stomach Smooth Muscle	stomach
38	chr4:8052000-8052400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:8052000-8052400	Enhancers	Adipose Nuclei	Adipose
40	chr4:8052000-8052400	Enhancers	Brain Germinal Matrix	brain
41	chr4:8052000-8052400	Enhancers	Colon Smooth Muscle	Colon
42	chr4:8052000-8052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:8052000-8052600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:8052000-8052600	Enhancers	Esophagus	oesophagus
45	chr4:8052000-8052600	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:8052000-8052800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:8052000-8052800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:8052000-8052800	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:8052000-8052800	Enhancers	Fetal Stomach	stomach
50	chr4:8052000-8052800	Enhancers	Lung	lung

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