Variant report

Variant	rs80019342
Chromosome Location	chr6:26275400-26275401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26275350-26275456	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26271163..26276024-chr6:27111926..27116309,5	MCF-7	breast:
2	chr13:21258740..21261103-chr6:26273602..26276161,2	MCF-7	breast:
3	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
4	chr6:26273199..26275817-chr6:26322608..26324495,2	MCF-7	breast:
5	chr6:26273305..26276123-chr6:26535998..26538001,3	K562	blood:
6	chr2:191744361..191746258-chr6:26273024..26275640,2	MCF-7	breast:
7	chr3:179958284..179960815-chr6:26273397..26275573,2	MCF-7	breast:
8	chr6:26275391..26278113-chr6:27778905..27781292,2	MCF-7	breast:
9	chr16:89776016..89778632-chr6:26274025..26275904,2	MCF-7	breast:
10	chr6:26269718..26276565-chr6:27099393..27105112,10	MCF-7	breast:
11	chr6:26020614..26023729-chr6:26272152..26276212,4	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3G	TF binding region
HIST1H2APS4	TF binding region
ENSG00000203813	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000261373	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000217862	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
12	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
13	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
14	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
15	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases
16	nsv969291	chr6:26274231-26276043	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26270400-26275400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:26273600-26282800	Weak transcription	Spleen	Spleen
3	chr6:26273600-26283400	Weak transcription	Pancreas	Pancrea
4	chr6:26274200-26275800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:26274200-26283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:26274400-26275400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:26274400-26275400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:26274400-26282800	Weak transcription	Lung	lung
9	chr6:26274400-26284000	Weak transcription	Esophagus	oesophagus
10	chr6:26274400-26284600	Weak transcription	Ovary	ovary
11	chr6:26274600-26275400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:26274600-26275400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr6:26274600-26275400	Flanking Active TSS	Thymus	Thymus
14	chr6:26274600-26275400	Flanking Active TSS	Dnd41	blood
15	chr6:26274600-26275800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:26274600-26276600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:26274600-26283600	Weak transcription	Stomach Mucosa	stomach
18	chr6:26274600-26284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:26274800-26275400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:26274800-26275400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:26274800-26275400	Enhancers	Fetal Intestine Small	intestine
22	chr6:26274800-26275800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:26274800-26275800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:26274800-26275800	Weak transcription	K562	blood
25	chr6:26274800-26276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:26274800-26276000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:26274800-26276000	Weak transcription	HUVEC	blood vessel
28	chr6:26274800-26276600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:26274800-26277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:26274800-26279400	Weak transcription	HSMMtube	muscle
31	chr6:26274800-26279800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:26274800-26280400	Weak transcription	Placenta	Placenta
33	chr6:26274800-26280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:26274800-26280800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:26274800-26280800	Weak transcription	Right Ventricle	heart
36	chr6:26274800-26281000	Weak transcription	Aorta	Aorta
37	chr6:26274800-26282600	Weak transcription	Hela-S3	cervix
38	chr6:26274800-26282800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:26274800-26282800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:26274800-26283200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:26274800-26283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:26274800-26283400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:26274800-26283800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:26274800-26283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:26275000-26275400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr6:26275000-26275600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr6:26275000-26275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:26275000-26275800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:26275000-26276400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:26275000-26276400	Enhancers	A549	lung

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