Variant report

Variant	rs530124828
Chromosome Location	chr6:34112140-34112141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34023393..34025806-chr6:34111046..34114201,3	MCF-7	breast:
2	chr6:34110331..34113788-chr6:34116260..34119382,3	MCF-7	breast:
3	chr6:33677651..33679939-chr6:34111673..34114600,2	MCF-7	breast:
4	chr6:34100230..34104042-chr6:34111323..34114936,4	K562	blood:
5	chr6:34101607..34103904-chr6:34110827..34112823,3	K562	blood:
6	chr6:34107259..34108884-chr6:34110412..34112851,2	MCF-7	breast:
7	chr6:34023163..34023796-chr6:34111451..34112193,2	MCF-7	breast:
8	chr6:34023119..34023631-chr6:34111504..34112235,2	K562	blood:
9	chr6:34111438..34113496-chr6:34384142..34385841,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction
ENSG00000124493	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv885780	chr6:34050917-34131376	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	esv3421071	chr6:34110799-34113347	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	esv21322	chr6:34111895-34113220	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34110000-34112600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr6:34110000-34112600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
3	chr6:34110200-34113200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr6:34110200-34114000	Bivalent Enhancer	Placenta	Placenta
5	chr6:34110400-34112800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:34110400-34114000	Bivalent Enhancer	Fetal Thymus	thymus
7	chr6:34110800-34113800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:34111000-34112600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr6:34111200-34112400	Bivalent Enhancer	Brain Substantia Nigra	brain
10	chr6:34111200-34112800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
11	chr6:34111200-34112800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
12	chr6:34111200-34112800	Enhancers	Gastric	stomach
13	chr6:34111200-34114000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr6:34111400-34112200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:34111400-34112200	Bivalent Enhancer	NH-A	brain
16	chr6:34111400-34112400	Bivalent Enhancer	Liver	Liver
17	chr6:34111400-34112400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr6:34111400-34112400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
19	chr6:34111400-34112400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr6:34111400-34112400	Bivalent Enhancer	Small Intestine	intestine
21	chr6:34111400-34112600	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr6:34111400-34112800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr6:34111400-34112800	Bivalent Enhancer	Fetal Lung	lung
27	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr6:34111400-34112800	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr6:34111400-34112800	Bivalent Enhancer	HUVEC	blood vessel
31	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
33	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr6:34111400-34113000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr6:34111400-34113400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:34111400-34113600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:34111400-34113600	Bivalent Enhancer	Lung	lung
38	chr6:34111400-34113600	Bivalent Enhancer	GM12878-XiMat	blood
39	chr6:34111400-34113800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:34111400-34113800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:34111400-34113800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:34111400-34113800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:34111600-34112200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
44	chr6:34111600-34112200	Bivalent/Poised TSS	A549	lung
45	chr6:34111600-34112400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
46	chr6:34111600-34112400	Flanking Active TSS	Psoas Muscle	Psoas
47	chr6:34111600-34112600	Bivalent Enhancer	Left Ventricle	heart
48	chr6:34111600-34112600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
49	chr6:34111600-34112600	Flanking Bivalent TSS/Enh	NHEK	skin
50	chr6:34111600-34112800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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