Variant report

Variant	rs533549618
Chromosome Location	chr6:26274635-26274636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26266613-26275023	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:26272943-26274805	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:26269656-26274808	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr6:26272667-26274707	GM12878	blood:	n/a	n/a
5	MTA3	chr6:26269886-26274743	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:26272872-26274688	GM12892	blood:	n/a	n/a
7	TAF7	chr6:26268962-26274860	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:26272347-26274698	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:26268330-26275103	MCF-7	breast:	n/a	n/a
10	ATF2	chr6:26273948-26274655	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:26272880-26274735	GM12878	blood:	n/a	n/a
12	STAT5A	chr6:26272480-26274815	GM12878	blood:	n/a	chr6:26273091-26273102 chr6:26274296-26274307
13	POLR2A	chr6:26269675-26274774	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFIC	chr6:26270143-26274772	GM12878	blood:	n/a	chr6:26271787-26271815
15	POLR2A	chr6:26268317-26274794	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:26272896-26274749	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:26274467-26274756	H1-hESC	embryonic stem cell:	n/a	n/a
18	RUNX3	chr6:26274070-26274701	GM12878	blood:	n/a	n/a
19	MXI1	chr6:26269688-26275175	SK-N-SH	brain:	n/a	n/a

No data

(count:15 , 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	chr6:26270978..26274693-chr6:27098356..27103484,7	MCF-7	breast:
6	chr6:26270273..26274919-chr6:27857077..27861037,6	MCF-7	breast:
7	chr6:26024260..26027949-chr6:26272859..26275159,3	MCF-7	breast:
8	chr6:26273305..26276123-chr6:26535998..26538001,3	K562	blood:
9	chr2:191744361..191746258-chr6:26273024..26275640,2	MCF-7	breast:
10	chr3:179958284..179960815-chr6:26273397..26275573,2	MCF-7	breast:
11	chr6:26033313..26036097-chr6:26273427..26274930,2	MCF-7	breast:
12	chr16:89776016..89778632-chr6:26274025..26275904,2	MCF-7	breast:
13	chr6:26269718..26276565-chr6:27099393..27105112,10	MCF-7	breast:
14	chr14:50153414..50155005-chr6:26272692..26275211,2	MCF-7	breast:
15	chr6:26020614..26023729-chr6:26272152..26276212,4	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2APS4	TF binding region
HIST1H3G	TF binding region
ENSG00000261373	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000100479	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000196787	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26269000-26274800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:26269400-26274800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:26269400-26275000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:26269800-26274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:26269800-26274800	Active TSS	NHLF	lung
6	chr6:26270000-26274800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:26270200-26274800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:26270400-26275400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:26270600-26274800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:26270600-26275000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:26271200-26274800	Active TSS	Right Ventricle	heart
12	chr6:26271200-26274800	Active TSS	HSMM	muscle
13	chr6:26271400-26274800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:26271400-26274800	Active TSS	Aorta	Aorta
15	chr6:26271400-26274800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr6:26271600-26274800	Active TSS	Colonic Mucosa	Colon
17	chr6:26271600-26274800	Active TSS	Placenta Amnion	Placenta Amnion
18	chr6:26271600-26274800	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr6:26272000-26274800	Active TSS	HSMMtube	muscle
20	chr6:26272400-26274800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:26272400-26274800	Active TSS	Fetal Intestine Small	intestine
22	chr6:26272400-26274800	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr6:26272600-26274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:26272800-26274800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:26272800-26274800	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:26272800-26274800	Active TSS	Fetal Stomach	stomach
27	chr6:26272800-26274800	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr6:26272800-26275000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:26272800-26275000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:26273000-26274800	Active TSS	Fetal Brain Female	brain
31	chr6:26273200-26274800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:26273200-26274800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:26273200-26274800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:26273200-26275000	Active TSS	A549	lung
35	chr6:26273400-26275000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr6:26273600-26274800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr6:26273600-26274800	Bivalent/Poised TSS	Left Ventricle	heart
38	chr6:26273600-26275000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:26273600-26275000	Active TSS	NHDF-Ad	bronchial
40	chr6:26273600-26282800	Weak transcription	Spleen	Spleen
41	chr6:26273600-26283400	Weak transcription	Pancreas	Pancrea
42	chr6:26273800-26274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:26273800-26274800	Bivalent/Poised TSS	Fetal Brain Male	brain
44	chr6:26273800-26274800	Active TSS	Fetal Muscle Trunk	muscle
45	chr6:26273800-26274800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:26273800-26274800	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:26273800-26274800	Active TSS	NH-A	brain
48	chr6:26273800-26275000	Active TSS	HMEC	breast
49	chr6:26274000-26274800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
50	chr6:26274000-26274800	Active TSS	Duodenum Smooth Muscle	Duodenum

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