Variant report

Variant	rs377415125
Chromosome Location	chr6:24706371-24706372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:24700987-24706658	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:24706171-24706580	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:24706364-24706464	ProgFib	skin:	n/a	n/a
4	POLR2A	chr6:24706264-24706800	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:24705480-24706433	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr6:24701665-24706460	K562	blood:	n/a	n/a
7	POLR2A	chr6:24706270-24706778	K562	blood:	n/a	n/a
8	POLR2A	chr6:24699666-24722345	K562	blood:	n/a	n/a
9	POLR2A	chr6:24700942-24707949	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:24705928-24706519	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:24706321-24706449	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:24705616-24710087	A549	lung:	n/a	n/a
13	POLR2A	chr6:24701284-24706680	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:24701377-24706586	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:24706127-24706575	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr6:24706228-24706395	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:24703719-24706512	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24705180..24707870-chr6:24773614..24775393,3	K562	blood:
2	chr6:24701974..24704901-chr6:24705179..24706820,2	K562	blood:
3	chr6:24696748..24707740-chr6:24716503..24724189,24	MCF-7	breast:
4	chr6:24700062..24702859-chr6:24704909..24709163,3	MCF-7	breast:
5	chr6:24704323..24706405-chr6:24780403..24782969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272402	TF binding region
ENSG00000272345	TF binding region
ENSG00000112312	Chromatin interaction
ENSG00000272345	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv515732	chr6:24705835-24709830	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24684800-24709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:24696600-24710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:24697800-24715800	Strong transcription	Fetal Thymus	thymus
4	chr6:24698000-24711600	Strong transcription	Primary T cells from cord blood	blood
5	chr6:24698200-24716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:24698200-24716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:24698200-24716400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:24698200-24717400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:24698400-24717400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:24698600-24715200	Weak transcription	Fetal Heart	heart
11	chr6:24698600-24716200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:24698600-24716200	Weak transcription	Right Atrium	heart
13	chr6:24699000-24716600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:24699000-24717400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:24699600-24712800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:24699800-24712400	Strong transcription	Dnd41	blood
17	chr6:24700000-24716800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:24700200-24713200	Weak transcription	Stomach Mucosa	stomach
19	chr6:24700600-24712400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:24700800-24707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:24701000-24707000	Weak transcription	Gastric	stomach
22	chr6:24701000-24711400	Strong transcription	Brain Hippocampus Middle	brain
23	chr6:24701200-24710600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr6:24701200-24711400	Strong transcription	Liver	Liver
25	chr6:24701200-24712200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:24701200-24713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:24701200-24714200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:24701400-24711000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:24701400-24711400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:24701400-24712200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr6:24701400-24713000	Strong transcription	Primary B cells from cord blood	blood
32	chr6:24701400-24713000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr6:24701400-24713200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:24701400-24713200	Strong transcription	Fetal Intestine Large	intestine
35	chr6:24701400-24715400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr6:24701400-24716800	Strong transcription	Placenta	Placenta
37	chr6:24701600-24712000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:24701600-24712400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:24701600-24714800	Strong transcription	HUVEC	blood vessel
40	chr6:24701600-24716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:24701600-24716200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr6:24701600-24716200	Strong transcription	HMEC	breast
43	chr6:24701600-24716600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:24701600-24716600	Strong transcription	Fetal Muscle Leg	muscle
45	chr6:24701800-24715400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:24701800-24715600	Strong transcription	Osteobl	bone
47	chr6:24701800-24716200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:24701800-24716800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:24702000-24710800	Strong transcription	Fetal Brain Female	brain
50	chr6:24702000-24712000	Strong transcription	NHEK	skin

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