Variant report

Variant	rs17249987
Chromosome Location	chr6:24648719-24648720
allele	A/G
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	POLR2A	chr6:24647900-24648790	A549	lung:	n/a	n/a
2	POLR2A	chr6:24648710-24648763	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:24647807-24649617	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24645863..24648986-chr6:24665821..24668897,5	MCF-7	breast:
2	chr6:24646579..24649824-chr6:24666656..24668956,3	K562	blood:

Variant related genes	Relation type
KIAA0319	TF binding region
ENSG00000112304	Chromatin interaction
ENSG00000111802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17243585	0.81[AFR][1000 genomes]
rs9986331	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24652200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
4	chr6:24646800-24649400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:24646800-24649400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:24646800-24650000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:24646800-24650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:24646800-24650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:24646800-24650200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:24646800-24650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:24646800-24650400	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:24646800-24650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:24646800-24650400	Weak transcription	HSMM	muscle
14	chr6:24646800-24650600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:24646800-24650600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:24646800-24650600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:24646800-24650800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:24646800-24651800	Weak transcription	Fetal Stomach	stomach
19	chr6:24646800-24651800	Weak transcription	Left Ventricle	heart
20	chr6:24646800-24651800	Weak transcription	Psoas Muscle	Psoas
21	chr6:24646800-24652000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:24646800-24652000	Weak transcription	Ovary	ovary
23	chr6:24646800-24652400	Weak transcription	Fetal Lung	lung
24	chr6:24646800-24652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:24646800-24652600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
27	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
28	chr6:24646800-24653200	Weak transcription	Gastric	stomach
29	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
30	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
31	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
32	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:24647000-24649400	Weak transcription	Primary T cells from cord blood	blood
34	chr6:24647000-24649400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:24647000-24649400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:24647000-24649400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:24647000-24649400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:24647000-24649400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:24647000-24649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:24647000-24649800	Weak transcription	Fetal Thymus	thymus
41	chr6:24647000-24650000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:24647000-24650000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:24647000-24650000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:24647000-24650000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr6:24647000-24650000	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:24647000-24650000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:24647000-24650000	Weak transcription	Small Intestine	intestine
48	chr6:24647000-24650000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:24647000-24650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:24647000-24650200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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