Variant report

Variant	rs13129206
Chromosome Location	chr4:8052871-8052872
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	chr4:8048107..8050691-chr4:8051962..8053661,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13108653	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574414	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34907812	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35048261	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3902791	0.80[AMR][1000 genomes]
rs4696738	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66980182	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8039200-8057000	Weak transcription	Gastric	stomach
2	chr4:8039400-8056600	Weak transcription	Aorta	Aorta
3	chr4:8047800-8054800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8048600-8054800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:8049000-8053400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8049200-8054200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:8049400-8054000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:8049600-8053000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:8049600-8054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:8050800-8053000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:8051000-8053400	Enhancers	Fetal Lung	lung
12	chr4:8051200-8054600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:8051200-8054600	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:8051600-8053800	Enhancers	Fetal Heart	heart
15	chr4:8051600-8054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:8051600-8054600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:8051600-8054600	Enhancers	Brain Anterior Caudate	brain
18	chr4:8052000-8053000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:8052000-8053000	Enhancers	Liver	Liver
20	chr4:8052000-8053000	Enhancers	Colonic Mucosa	Colon
21	chr4:8052000-8053000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:8052000-8053000	Bivalent Enhancer	Placenta	Placenta
23	chr4:8052000-8053000	Enhancers	Ovary	ovary
24	chr4:8052000-8053000	Enhancers	Psoas Muscle	Psoas
25	chr4:8052000-8053000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:8052000-8053000	Enhancers	Right Atrium	heart
27	chr4:8052000-8053000	Enhancers	Right Ventricle	heart
28	chr4:8052000-8053200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:8052000-8053200	Enhancers	Brain Substantia Nigra	brain
30	chr4:8052000-8053600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:8052000-8053600	Enhancers	Left Ventricle	heart
32	chr4:8052000-8053800	Enhancers	Fetal Muscle Trunk	muscle
33	chr4:8052000-8054800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:8052000-8054800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:8052000-8055000	Enhancers	Brain Angular Gyrus	brain
36	chr4:8052200-8053000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:8052200-8053000	Enhancers	Fetal Intestine Small	intestine
38	chr4:8052200-8053000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:8052200-8053000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr4:8052200-8053000	Enhancers	HSMMtube	muscle
41	chr4:8052200-8053000	Bivalent Enhancer	NH-A	brain
42	chr4:8052200-8053000	Enhancers	NHLF	lung
43	chr4:8052200-8053200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:8052200-8053200	Enhancers	Fetal Brain Male	brain
45	chr4:8052400-8053000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr4:8052400-8053000	Enhancers	Pancreas	Pancrea
47	chr4:8052400-8053200	Enhancers	Fetal Brain Female	brain
48	chr4:8052400-8053400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:8052400-8054200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:8052600-8053000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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