Variant report

Variant	rs6849868
Chromosome Location	chr4:7065725-7065726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
2	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173011	Chromatin interaction
ENSG00000245748	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16839622	1.00[EUR][1000 genomes]
rs28634454	1.00[EUR][1000 genomes]
rs28791931	1.00[EUR][1000 genomes]
rs60859019	1.00[EUR][1000 genomes]
rs6827203	1.00[EUR][1000 genomes]
rs9998889	0.95[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	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
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7049800-7066800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:7052200-7067000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:7052600-7066600	Strong transcription	Dnd41	blood
5	chr4:7052800-7066000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr4:7053000-7066800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:7054400-7067000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:7054800-7065800	Strong transcription	Brain Germinal Matrix	brain
9	chr4:7054800-7067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:7055000-7067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:7055000-7068200	Weak transcription	Fetal Heart	heart
12	chr4:7055200-7067200	Strong transcription	Primary T cells from cord blood	blood
13	chr4:7055200-7068400	Strong transcription	Fetal Stomach	stomach
14	chr4:7055400-7067000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:7055400-7068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:7055600-7065800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:7055600-7066200	Strong transcription	Fetal Lung	lung
18	chr4:7055600-7067800	Strong transcription	Fetal Thymus	thymus
19	chr4:7055600-7068200	Strong transcription	Fetal Muscle Leg	muscle
20	chr4:7055600-7068200	Strong transcription	Placenta	Placenta
21	chr4:7055800-7066600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:7055800-7067000	Strong transcription	Adipose Nuclei	Adipose
23	chr4:7056000-7067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:7056200-7067200	Strong transcription	Lung	lung
25	chr4:7056400-7068200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:7057000-7068200	Strong transcription	Osteobl	bone
27	chr4:7057400-7068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:7057600-7067200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr4:7057800-7067600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:7059600-7066000	Strong transcription	Fetal Brain Female	brain
31	chr4:7059600-7066000	Strong transcription	NH-A	brain
32	chr4:7059600-7066200	Strong transcription	A549	lung
33	chr4:7059600-7066800	Strong transcription	HUVEC	blood vessel
34	chr4:7059600-7067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:7059600-7067200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:7059600-7067800	Strong transcription	NHEK	skin
37	chr4:7059600-7068400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:7060000-7066200	Strong transcription	Gastric	stomach
39	chr4:7060000-7067000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:7060200-7066000	Strong transcription	Aorta	Aorta
41	chr4:7060200-7066000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:7060200-7066400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:7060200-7067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:7060200-7067000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:7060200-7067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:7060200-7067000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr4:7060200-7067000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:7060200-7067200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:7060400-7066000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:7060400-7066200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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