Variant report

Variant	rs554854255
Chromosome Location	chr6:26520356-26520357
allele	A/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	MAX	chr6:26520313-26521740	HepG2	liver:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
2	POLR2A	chr6:26520247-26521311	HepG2	liver:	n/a	n/a
3	MTA3	chr6:26520278-26521040	GM12878	blood:	n/a	n/a
4	MAX	chr6:26520343-26521840	HCT-116	colon:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
5	HEY1	chr6:26520338-26521075	K562	blood:	n/a	n/a
6	TEAD4	chr6:26520270-26521048	K562	blood:	n/a	n/a
7	SREBP2	chr6:26520144-26522402	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:26520198-26521685	SK-N-MC	brain:	n/a	n/a
9	NR2F2	chr6:26520318-26521085	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26297237..26299588-chr6:26519952..26522018,2	K562	blood:
2	chr6:26383299..26384986-chr6:26520070..26522600,2	K562	blood:
3	chr6:26420252..26422779-chr6:26519711..26522673,2	K562	blood:
4	chr6:26229652..26232354-chr6:26520028..26522000,2	K562	blood:
5	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
6	chr6:26157128..26159753-chr6:26519202..26521718,3	K562	blood:
7	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
8	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
9	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
10	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
11	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
12	chr6:26248591..26251636-chr6:26519454..26522320,3	K562	blood:
13	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
14	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
15	chr6:26420245..26422646-chr6:26519763..26522632,2	K562	blood:
16	chr6:26399787..26402548-chr6:26520304..26522588,2	K562	blood:
17	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
18	chr6:26122246..26124996-chr6:26519353..26522732,3	K562	blood:
19	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
20	chr1:228783557..228784071-chr6:26519913..26520856,2	Hela-S3	cervix:
21	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
22	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
23	chr6:26283829..26285786-chr6:26519588..26522507,3	K562	blood:
24	chr6:26440218..26442900-chr6:26520172..26522018,2	K562	blood:

Variant related genes	Relation type
HCG11	TF binding region
RNU6-502P	TF binding region
ENSG00000215979	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000220875	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000252399	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000212237	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000112763	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3421845	chr6:26519998-26522546	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26505600-26520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26514200-26520400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:26515600-26520400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:26516000-26520400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:26516000-26520400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:26516200-26520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:26517200-26520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:26517800-26520400	Weak transcription	A549	lung
9	chr6:26519000-26520400	Enhancers	K562	blood
10	chr6:26519000-26520600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:26519800-26520400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:26520000-26520600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:26520200-26520400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:26520200-26520400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:26520200-26520400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:26520200-26520400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:26520200-26520400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:26520200-26520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:26520200-26520400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:26520200-26520400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:26520200-26520400	Enhancers	Primary T cells from cord blood	blood
22	chr6:26520200-26520400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:26520200-26520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:26520200-26520400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:26520200-26520400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:26520200-26520400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:26520200-26520400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:26520200-26520400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:26520200-26520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:26520200-26520400	Enhancers	Brain Anterior Caudate	brain
31	chr6:26520200-26520400	Enhancers	Brain Germinal Matrix	brain
32	chr6:26520200-26520400	Enhancers	Brain Hippocampus Middle	brain
33	chr6:26520200-26520400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:26520200-26520400	Enhancers	Colon Smooth Muscle	Colon
35	chr6:26520200-26520400	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:26520200-26520400	Enhancers	Fetal Kidney	kidney
37	chr6:26520200-26520400	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:26520200-26520400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:26520200-26520400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:26520200-26520400	Enhancers	Dnd41	blood
41	chr6:26520200-26520400	Enhancers	GM12878-XiMat	blood
42	chr6:26520200-26520400	Enhancers	Hela-S3	cervix
43	chr6:26520200-26520400	Enhancers	HepG2	liver
44	chr6:26520200-26520400	Enhancers	HMEC	breast
45	chr6:26520200-26520400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:26520200-26520400	Enhancers	NHEK	skin
47	chr6:26520200-26520600	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:26520200-26520600	Enhancers	Primary hematopoietic stem cells	blood
49	chr6:26520200-26520600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:26520200-26520600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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