Variant report

Variant	rs61994920
Chromosome Location	chr14:37125263-37125264
allele	C/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	CTCF	chr14:37125220-37125370	HPF	lung:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
2	CTCF	chr14:37125176-37125285	GM13976	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
3	CTCF	chr14:37125160-37125310	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
4	CTCF	chr14:37125140-37125290	HPF	lung:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
5	CTCF	chr14:37125154-37125350	GM12878	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
6	CTCF	chr14:37125160-37125310	K562	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
7	CTCF	chr14:37125160-37125310	WERI-Rb-1	eye:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
8	CTCF	chr14:37125144-37125354	GM13977	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
9	CTCF	chr14:37125204-37125375	GM20000	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
10	RAD21	chr14:37124972-37125844	HCT-116	colon:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
11	CTCF	chr14:37125160-37125310	GM12870	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
12	CTCF	chr14:37125140-37125290	GM12873	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
13	CTCF	chr14:37125140-37125290	GM12866	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
14	CTCF	chr14:37125128-37125357	GM19238	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
15	CTCF	chr14:37125160-37125310	SAEC	small airway:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
16	CTCF	chr14:37125143-37125341	GM10266	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
17	CTCF	chr14:37125160-37125310	HEEpiC	esophagus:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
18	ZNF143	chr14:37125110-37125413	GM12878	blood:	n/a	chr14:37125264-37125282 chr14:37125330-37125348
19	CTCF	chr14:37125170-37125293	Kidney_OC	kidney:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
20	GATA3	chr14:37124966-37125815	MCF-7	breast:	n/a	chr14:37125495-37125504
21	CTCF	chr14:37125160-37125310	BJ	skin:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
22	CTCF	chr14:37125180-37125330	HA-sp	spinal cord:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
23	CTCF	chr14:37124980-37125583	HCT-116	colon:	n/a	chr14:37125235-37125251 chr14:37124981-37124990 chr14:37125236-37125257
24	CTCF	chr14:37125200-37125350	GM12864	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
25	CTCF	chr14:37124966-37125861	HCT-116	colon:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
26	RAD21	chr14:37124931-37125899	MCF-7	breast:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
27	CTCF	chr14:37124858-37125853	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
28	RAD21	chr14:37125090-37125722	HepG2	liver:	n/a	chr14:37125207-37125219
29	YY1	chr14:37125006-37125544	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:37125145-37125354	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
31	RAD21	chr14:37125043-37125331	SK-N-SH_RA	brain:	n/a	chr14:37125207-37125219
32	CTCF	chr14:37124839-37125932	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
33	CTCF	chr14:37125180-37125330	GM12865	blood:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
34	CTCF	chr14:37125160-37125310	HRE	kidney:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
35	CTCF	chr14:37125051-37125742	GM12878	blood:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
36	CTCF	chr14:37125260-37125410	RPTEC	kidney:	n/a	n/a
37	CTCF	chr14:37125200-37125350	NHDF-neo	bronchial:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
38	CTCF	chr14:37125140-37125290	HA-sp	spinal cord:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
39	CTCF	chr14:37125240-37125390	HCM	heart:	n/a	n/a
40	BHLHE40	chr14:37125195-37125436	GM12878	blood:	n/a	n/a
41	CTCF	chr14:37125200-37125350	HEK293	kidney:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
42	CTCF	chr14:37125180-37125330	HEEpiC	esophagus:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
43	RAD21	chr14:37125017-37125818	A549	lung:	n/a	chr14:37125207-37125219
44	CTCF	chr14:37125137-37125703	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
45	CTCF	chr14:37125160-37125310	SK-N-SH_RA	brain:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
46	CTCF	chr14:37125120-37125270	AoAF	blood vessel:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
47	CTCF	chr14:37125125-37125387	H1-hESC	embryonic stem cell:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
48	SP1	chr14:37124955-37125431	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr14:37125139-37125399	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125236-37125257
50	CTCF	chr14:37125190-37125276	LNCaP	prostate:	n/a	chr14:37125235-37125251 chr14:37125236-37125257

No.	Distal block	Cell Line	Cell type
1	chr14:37117154..37117736-chr14:37125062..37125846,2	MCF-7	breast:
2	chr14:37123611..37125752-chr14:37131766..37134871,3	K562	blood:
3	chr14:37123859..37125533-chr14:37132876..37135403,2	MCF-7	breast:
4	chr14:37124823..37125996-chr14:37445069..37445745,4	MCF-7	breast:
5	chr14:37124767..37125644-chr14:37411238..37412049,2	MCF-7	breast:
6	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
7	chr14:37124916..37125700-chr14:37411276..37411960,2	MCF-7	breast:

Variant related genes	Relation type
PAX9	TF binding region
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1016788	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11623821	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627979	0.84[ASN][1000 genomes]
rs1950363	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2295222	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415353	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34070426	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35122436	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58039807	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61994901	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140425	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7142363	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723617	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72679708	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123000-37126000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:37123400-37125400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
4	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:37123600-37125400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr14:37123600-37126400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr14:37123600-37128200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr14:37123800-37126400	Bivalent Enhancer	Left Ventricle	heart
9	chr14:37123800-37128000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr14:37124000-37125400	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr14:37124000-37126200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:37124000-37126400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr14:37124200-37126400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr14:37124200-37126800	Enhancers	Pancreas	Pancrea
15	chr14:37124400-37125400	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr14:37124400-37125600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:37124400-37127200	Bivalent Enhancer	Placenta	Placenta
18	chr14:37124800-37125400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr14:37124800-37125400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:37124800-37125400	Bivalent Enhancer	Brain Substantia Nigra	brain
21	chr14:37124800-37125400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:37124800-37125400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr14:37124800-37125600	Bivalent Enhancer	Small Intestine	intestine
24	chr14:37124800-37125800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:37124800-37125800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:37124800-37125800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr14:37124800-37126000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:37124800-37126000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr14:37124800-37126200	Bivalent Enhancer	Fetal Brain Female	brain
30	chr14:37124800-37126400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:37125000-37125400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr14:37125000-37125600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:37125000-37125600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr14:37125000-37125600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr14:37125000-37125600	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr14:37125000-37125800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:37125000-37126000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:37125000-37126200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr14:37125000-37127000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr14:37125000-37128000	Bivalent Enhancer	Liver	Liver
41	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
42	chr14:37125200-37125400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr14:37125200-37125400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:37125200-37125400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:37125200-37125400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:37125200-37125400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr14:37125200-37125400	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr14:37125200-37125400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr14:37125200-37125400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
50	chr14:37125200-37125400	Bivalent Enhancer	Right Ventricle	heart

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