Variant report

Variant	rs6832413
Chromosome Location	chr4:7047305-7047306
allele	C/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	GATA3	chr4:7047197-7047625	T-47D	breast:	n/a	n/a
2	GATA3	chr4:7047207-7047606	T-47D	breast:	n/a	n/a
3	MTA3	chr4:7047165-7048166	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
2	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:

Variant related genes	Relation type
CCDC96	TF binding region
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012093	0.87[EUR][1000 genomes]
rs10937781	0.90[EUR][1000 genomes]
rs13113578	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3951347	0.90[EUR][1000 genomes]
rs4234794	1.00[AFR][1000 genomes]
rs4513569	0.90[EUR][1000 genomes]
rs4689062	1.00[EUR][1000 genomes]
rs4689063	0.95[EUR][1000 genomes]
rs4689582	0.95[EUR][1000 genomes]
rs4689588	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62289160	1.00[AFR][1000 genomes]
rs62289165	1.00[AFR][1000 genomes]
rs6814746	0.90[EUR][1000 genomes]
rs6841824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6849547	1.00[EUR][1000 genomes]
rs7666504	0.90[EUR][1000 genomes]
rs7673889	1.00[AFR][1000 genomes]
rs7699619	0.90[EUR][1000 genomes]
rs871133	1.00[EUR][1000 genomes]
rs907522	0.90[EUR][1000 genomes]
rs907524	0.90[EUR][1000 genomes]
rs907525	0.90[EUR][1000 genomes]
rs9985704	0.90[EUR][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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers 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	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv1801315	chr4:7044007-7052777	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835149	chr4:7044007-7052777	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv593556	chr4:7044447-7048842	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv1798014	chr4:7044504-7052182	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7045400-7048000	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr4:7045800-7047400	Flanking Active TSS	Fetal Lung	lung
3	chr4:7045800-7047600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:7045800-7047600	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr4:7045800-7048200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr4:7045800-7049400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:7046000-7047400	Flanking Active TSS	Fetal Brain Female	brain
8	chr4:7046000-7047600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr4:7046200-7047400	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr4:7046200-7047600	Flanking Active TSS	Pancreas	Pancrea
11	chr4:7046200-7047800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:7046200-7048000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:7046200-7048800	Flanking Active TSS	HSMM	muscle
14	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:7046400-7047400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:7046400-7047400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr4:7046400-7047600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:7046400-7047800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr4:7046400-7048000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr4:7046400-7048000	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr4:7046400-7049000	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:7046400-7049800	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:7046400-7049800	Genic enhancers	Spleen	Spleen
24	chr4:7046600-7047800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:7046600-7047800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:7046600-7047800	Enhancers	Thymus	Thymus
27	chr4:7046600-7047800	Enhancers	K562	blood
28	chr4:7046600-7048000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:7046600-7048400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:7046600-7048600	Enhancers	Small Intestine	intestine
31	chr4:7046600-7049400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:7046600-7050400	Enhancers	Lung	lung
33	chr4:7046600-7050800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr4:7046600-7051400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:7046600-7053800	Weak transcription	A549	lung
36	chr4:7046600-7055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:7046600-7055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:7046600-7055800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:7046800-7047400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:7046800-7047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:7046800-7047600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:7046800-7047600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:7046800-7047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:7046800-7047800	Genic enhancers	Gastric	stomach
46	chr4:7046800-7047800	Enhancers	Osteobl	bone
47	chr4:7046800-7048400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:7046800-7048800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:7046800-7048800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:7046800-7048800	Genic enhancers	Fetal Stomach	stomach

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