Variant report

Variant	rs61349493
Chromosome Location	chr14:104159429-104159430
allele	C/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	FOXM1	chr14:104159396-104160347	MCF-7	breast:	n/a	n/a
2	EP300	chr14:104159124-104160496	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:104159244-104159476	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:104159375-104159478	Hela-S3	cervix:	n/a	n/a
5	NR2F2	chr14:104159275-104160357	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:104159146-104159612	HL-60	blood:	n/a	n/a
7	POLR2A	chr14:104159349-104160681	SK-N-MC	brain:	n/a	n/a
8	FOXM1	chr14:104159132-104160462	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:104158412-104167854	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr14:104159213-104160492	MCF-7	breast:	n/a	n/a
11	NR2F2	chr14:104159099-104160473	MCF-7	breast:	n/a	n/a
12	MAX	chr14:104159148-104159541	ECC-1	luminal epithelium:	n/a	n/a
13	GABPA	chr14:104159291-104160381	MCF-7	breast:	n/a	n/a
14	GATA3	chr14:104159129-104160528	MCF-7	breast:	n/a	chr14:104160268-104160278 chr14:104159297-104159306
15	HDAC2	chr14:104159064-104160466	MCF-7	breast:	n/a	chr14:104159146-104159165
16	POLR2A	chr14:104159388-104159468	ProgFib	skin:	n/a	n/a
17	GATA3	chr14:104159396-104160228	MCF-7	breast:	n/a	n/a
18	TFAP2C	chr14:104159302-104160493	Hela-S3	cervix:	n/a	chr14:104159398-104159413
19	GATA3	chr14:104159184-104160336	MCF-7	breast:	n/a	chr14:104160268-104160278 chr14:104159297-104159306
20	POLR2A	chr14:104158357-104176753	K562	blood:	n/a	n/a
21	MAX	chr14:104159167-104160489	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:104159189-104160523	MCF-7	breast:	n/a	n/a
23	MAX	chr14:104159162-104160393	MCF-7	breast:	n/a	n/a
24	ELF1	chr14:104159121-104160430	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104153451..104157331-chr14:104158433..104160697,4	MCF-7	breast:
2	chr14:104159263..104159976-chr14:104177064..104177616,2	MCF-7	breast:
3	chr14:104095140..104096884-chr14:104158687..104161252,3	MCF-7	breast:
4	chr14:104094760..104097289-chr14:104157296..104159578,3	K562	blood:
5	chr14:104159423..104160385-chr14:104396350..104397254,2	MCF-7	breast:
6	chr14:104093231..104097862-chr14:104156769..104161796,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269958	TF binding region
ENSG00000269940	TF binding region
ENSG00000270108	Chromatin interaction
ENSG00000224997	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1799795	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3212061	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3212068	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3212079	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57736032	0.88[AFR][1000 genomes]
rs58141830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58227725	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60701960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs729436	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:104119400-104161800	Strong transcription	Fetal Intestine Small	intestine
5	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:104120200-104161400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:104120200-104161800	Strong transcription	Fetal Intestine Large	intestine
10	chr14:104120400-104161200	Strong transcription	Fetal Stomach	stomach
11	chr14:104121000-104162000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:104130600-104159600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr14:104131000-104161800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:104134200-104161600	Strong transcription	NHDF-Ad	bronchial
18	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:104139800-104164400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:104143600-104162400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:104146000-104161400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:104146200-104174800	Weak transcription	K562	blood
23	chr14:104147800-104159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:104149200-104164600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:104151400-104161800	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr14:104152600-104160000	Weak transcription	Fetal Brain Male	brain
27	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
28	chr14:104152800-104160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:104153800-104164000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:104154400-104165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:104155200-104162600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:104155800-104160800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:104155800-104161200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:104156000-104162000	Weak transcription	Fetal Heart	heart
35	chr14:104156200-104162000	Strong transcription	Osteobl	bone
36	chr14:104156400-104161800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:104156800-104160600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:104156800-104162000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:104157000-104160000	Weak transcription	Brain Angular Gyrus	brain
40	chr14:104157000-104160400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:104157000-104161400	Strong transcription	Fetal Lung	lung
42	chr14:104157000-104162400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:104157000-104162400	Weak transcription	Right Atrium	heart
44	chr14:104157200-104159600	Weak transcription	HSMMtube	muscle
45	chr14:104157400-104167600	Genic enhancers	Placenta	Placenta
46	chr14:104157600-104164600	Strong transcription	Thymus	Thymus
47	chr14:104158000-104161200	Strong transcription	Brain Germinal Matrix	brain
48	chr14:104158000-104162800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:104158200-104160400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:104158200-104160800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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