Variant report

Variant	rs6851332
Chromosome Location	chr4:87926155-87926156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:87925639-87929947	K562	blood:	n/a	n/a
2	POLR2A	chr4:87926128-87929792	GM12891	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87925728..87928090-chr4:88141264..88142892,2	MCF-7	breast:
2	chr4:87925271..87927953-chr4:88006288..88008752,2	K562	blood:
3	chr4:87925271..87928107-chr4:88005926..88008504,3	K562	blood:
4	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
5	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
6	chr4:87925170..87928506-chr4:88140421..88143207,4	MCF-7	breast:
7	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
8	chr4:87925063..87927855-chr4:88154539..88157120,2	MCF-7	breast:

No data

Variant related genes	Relation type
AFF1	TF binding region
ENSG00000172493	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000235043	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11931688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933302	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11936587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012279	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28372291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28544381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56800179	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57785643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58016426	1.00[EUR][1000 genomes]
rs59030024	0.88[EUR][1000 genomes]
rs59188173	1.00[EUR][1000 genomes]
rs59830245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61009470	1.00[EUR][1000 genomes]
rs6821413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6822432	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6824639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834549	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6855627	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7659244	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7680465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:87899200-87926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:87903200-87926200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:87904200-87926200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:87914200-87927400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:87916000-87926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:87916200-87927200	Weak transcription	Esophagus	oesophagus
8	chr4:87916400-87926200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:87916400-87927200	Weak transcription	Gastric	stomach
10	chr4:87919000-87927000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:87919200-87927400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:87920800-87926200	Weak transcription	Thymus	Thymus
13	chr4:87921000-87926400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:87921200-87926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:87921200-87926200	Weak transcription	Left Ventricle	heart
16	chr4:87921200-87926200	Weak transcription	Spleen	Spleen
17	chr4:87921200-87926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:87921200-87927000	Weak transcription	Right Ventricle	heart
19	chr4:87921400-87926200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:87921400-87926400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:87921600-87926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:87921600-87926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:87921600-87926200	Weak transcription	Fetal Thymus	thymus
24	chr4:87921600-87926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:87921600-87926400	Weak transcription	Brain Substantia Nigra	brain
26	chr4:87921600-87926400	Weak transcription	Stomach Mucosa	stomach
27	chr4:87921600-87926400	Weak transcription	K562	blood
28	chr4:87921800-87926200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:87921800-87926200	Weak transcription	HUVEC	blood vessel
30	chr4:87921800-87926600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:87921800-87926600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:87922000-87926200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:87922000-87926600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:87922200-87926200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:87922200-87926400	Weak transcription	Fetal Lung	lung
36	chr4:87922200-87926600	Weak transcription	Adipose Nuclei	Adipose
37	chr4:87922400-87926400	Weak transcription	Liver	Liver
38	chr4:87922400-87927000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:87923000-87926200	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:87923000-87926200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:87923000-87926200	Weak transcription	Small Intestine	intestine
42	chr4:87923000-87926400	Weak transcription	Fetal Stomach	stomach
43	chr4:87923000-87926600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:87923200-87926200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:87923200-87926200	Weak transcription	Right Atrium	heart
46	chr4:87923200-87926400	Weak transcription	Osteobl	bone
47	chr4:87923200-87927200	Weak transcription	Ovary	ovary
48	chr4:87923400-87926200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:87923400-87926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:87923400-87926200	Weak transcription	Psoas Muscle	Psoas

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