Variant report

Variant	rs556431217
Chromosome Location	chr6:26522873-26522874
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26521806-26522903	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:26520385-26522995	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr6:26521850-26523103	K562	blood:	n/a	n/a
4	NR2F2	chr6:26521344-26523573	K562	blood:	n/a	n/a
5	POLR2A	chr6:26521709-26522891	GM12878	blood:	n/a	n/a
6	CEBPB	chr6:26522789-26523530	K562	blood:	n/a	n/a
7	POLR2A	chr6:26521719-26523709	Hela-S3	cervix:	n/a	n/a
8	UBTF	chr6:26520610-26522964	K562	blood:	n/a	n/a
9	HCFC1	chr6:26521131-26523002	Hela-S3	cervix:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26101462..26104336-chr6:26520946..26522887,2	MCF-7	breast:
2	chr6:26522739..26526214-chr6:26594718..26597971,4	K562	blood:
3	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
4	chr6:26234528..26236146-chr6:26520612..26523386,2	K562	blood:
5	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
6	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
7	chr6:26217116..26219858-chr6:26520988..26523268,4	K562	blood:
8	chr6:26187831..26190328-chr6:26520761..26523308,3	K562	blood:
9	chr6:6857012..6857665-chr6:26522158..26523073,2	Hela-S3	cervix:
10	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
11	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
12	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
13	chr6:26352931..26356420-chr6:26520848..26524138,3	K562	blood:
14	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
15	chr6:26203687..26207464-chr6:26521178..26524047,5	K562	blood:
16	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
17	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
18	chr6:26400255..26403237-chr6:26521906..26524697,3	K562	blood:
19	chr6:26521728..26524870-chr6:26525559..26528465,3	MCF-7	breast:
20	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
21	chr6:26439181..26441832-chr6:26522312..26525308,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261353	TF binding region
RNU6-502P	TF binding region
ENSG00000196866	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000252399	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197409	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	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
5	esv3374626	chr6:26520998-26523546	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
6	nsv965690	chr6:26522364-26528458	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26520400-26523000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:26520400-26523000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr6:26520400-26523200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:26520600-26523000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:26520600-26523000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:26520600-26523000	Active TSS	Psoas Muscle	Psoas
7	chr6:26520600-26523200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:26520600-26523200	Active TSS	Fetal Stomach	stomach
9	chr6:26520600-26523400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:26520600-26523400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:26520600-26523400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:26520600-26523400	Active TSS	Brain Substantia Nigra	brain
13	chr6:26520600-26523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:26520600-26523800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:26520600-26523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:26520600-26524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:26520800-26523000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:26520800-26523000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:26520800-26523000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:26520800-26523000	Active TSS	Brain Anterior Caudate	brain
21	chr6:26520800-26523000	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:26520800-26523000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr6:26520800-26523000	Active TSS	Fetal Intestine Large	intestine
24	chr6:26520800-26523200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:26520800-26523200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:26520800-26523200	Active TSS	Fetal Muscle Leg	muscle
27	chr6:26520800-26523400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:26520800-26523400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:26520800-26523400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:26520800-26523400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:26520800-26523400	Active TSS	Fetal Kidney	kidney
32	chr6:26520800-26523600	Active TSS	Thymus	Thymus
33	chr6:26521000-26523000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr6:26521000-26523000	Active TSS	Stomach Smooth Muscle	stomach
35	chr6:26521000-26523400	Active TSS	Fetal Muscle Trunk	muscle
36	chr6:26521000-26523400	Active TSS	Osteobl	bone
37	chr6:26521000-26523600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:26521000-26523600	Active TSS	Hela-S3	cervix
39	chr6:26521000-26523600	Active TSS	NHDF-Ad	bronchial
40	chr6:26521000-26524000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:26521000-26524000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:26521000-26524400	Active TSS	GM12878-XiMat	blood
43	chr6:26521600-26523000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:26521600-26523000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:26521600-26523600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr6:26521600-26523600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:26521800-26523200	Active TSS	Colon Smooth Muscle	Colon
48	chr6:26522000-26523000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr6:26522000-26523000	Enhancers	HepG2	liver
50	chr6:26522000-26523200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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