Variant report

Variant	rs61400279
Chromosome Location	chr16:75288237-75288238
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	CEBPB	chr16:75288232-75288930	IMR90	lung:	n/a	chr16:75288383-75288396
2	POLR2A	chr16:75288167-75288655	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:75288025-75288664	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:75288185-75288628	HUVEC	blood vessel:	n/a	n/a
5	CEBPB	chr16:75288129-75288932	MCF-7	breast:	n/a	chr16:75288383-75288396
6	EP300	chr16:75288109-75288509	T-47D	breast:	n/a	n/a
7	HDAC2	chr16:75288116-75289006	MCF-7	breast:	n/a	chr16:75288259-75288278
8	POLR2A	chr16:75288058-75288566	HepG2	liver:	n/a	n/a
9	FOXP2	chr16:75288104-75288524	SK-N-MC	brain:	n/a	n/a
10	BCL3	chr16:75287948-75288419	A549	lung:	n/a	n/a
11	CEBPB	chr16:75288146-75288913	MCF-7	breast:	n/a	chr16:75288383-75288396
12	POLR2A	chr16:75288200-75289630	HUVEC	blood vessel:	n/a	n/a
13	NR3C1	chr16:75288226-75288906	A549	lung:	n/a	n/a
14	FOXA2	chr16:75288191-75288808	A549	lung:	n/a	n/a
15	FOXA1	chr16:75288217-75288729	T-47D	breast:	n/a	n/a
16	SIN3AK20	chr16:75287984-75289105	MCF-7	breast:	n/a	n/a
17	POLR2A	chr16:75287828-75288609	HepG2	liver:	n/a	n/a
18	TCF12	chr16:75288021-75288856	A549	lung:	n/a	chr16:75288705-75288713
19	SP1	chr16:75288058-75288835	A549	lung:	n/a	n/a
20	FOXP2	chr16:75288088-75288641	SK-N-MC	brain:	n/a	n/a
21	FOXA2	chr16:75288129-75288870	A549	lung:	n/a	n/a
22	POLR2A	chr16:75288151-75288781	MCF-7	breast:	n/a	n/a
23	MAX	chr16:75288073-75288924	MCF-7	breast:	n/a	chr16:75288583-75288593
24	POLR2A	chr16:75280180-75288779	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr16:75288077-75288872	A549	lung:	n/a	n/a
26	FOXA1	chr16:75288200-75288608	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75261304..75263525-chr16:75287372..75289617,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11545087	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11859224	0.91[EUR][1000 genomes]
rs16957329	0.91[EUR][1000 genomes]
rs16957444	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17673911	0.91[EUR][1000 genomes]
rs56902145	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57145526	0.92[AFR][1000 genomes]
rs57376763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57803698	0.85[AFR][1000 genomes]
rs57935818	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58792750	0.85[AFR][1000 genomes]
rs59475255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59633007	0.92[AFR][1000 genomes]
rs59720502	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs59769904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59844729	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs730367	1.00[AFR][1000 genomes];1.00[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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75285600-75288400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:75285600-75288400	Enhancers	Gastric	stomach
3	chr16:75285600-75291600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:75285600-75292400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:75285600-75293000	Enhancers	Lung	lung
6	chr16:75285600-75293000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr16:75285600-75293200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:75285800-75288600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:75285800-75292800	Enhancers	Right Atrium	heart
10	chr16:75286000-75288800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:75286000-75289200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:75286000-75289400	Enhancers	Liver	Liver
13	chr16:75286000-75289400	Enhancers	Brain Angular Gyrus	brain
14	chr16:75286000-75290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:75286000-75290600	Enhancers	Right Ventricle	heart
16	chr16:75286000-75292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:75286000-75292000	Enhancers	Esophagus	oesophagus
18	chr16:75286000-75292200	Enhancers	Stomach Mucosa	stomach
19	chr16:75286000-75292200	Enhancers	NHEK	skin
20	chr16:75286000-75292400	Enhancers	Fetal Intestine Large	intestine
21	chr16:75286000-75293000	Enhancers	Left Ventricle	heart
22	chr16:75286000-75293000	Enhancers	Ovary	ovary
23	chr16:75286000-75293200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:75286000-75293200	Enhancers	Fetal Lung	lung
25	chr16:75286000-75293200	Enhancers	NHDF-Ad	bronchial
26	chr16:75286000-75293400	Enhancers	HMEC	breast
27	chr16:75286000-75297400	Enhancers	Psoas Muscle	Psoas
28	chr16:75286000-75297600	Genic enhancers	Fetal Intestine Small	intestine
29	chr16:75286000-75298000	Genic enhancers	Fetal Stomach	stomach
30	chr16:75286200-75288400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:75286200-75288400	Enhancers	Pancreas	Pancrea
32	chr16:75286200-75288600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:75286200-75288600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:75286200-75289200	Enhancers	Duodenum Mucosa	Duodenum
35	chr16:75286200-75289800	Weak transcription	K562	blood
36	chr16:75286200-75290400	Enhancers	HSMMtube	muscle
37	chr16:75286200-75290800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:75286200-75291000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:75286200-75292200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:75286200-75293000	Enhancers	Brain Substantia Nigra	brain
41	chr16:75286200-75293200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr16:75286200-75293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:75286200-75293200	Enhancers	Fetal Heart	heart
44	chr16:75286200-75293400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr16:75286400-75289400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr16:75286400-75290000	Enhancers	Rectal Smooth Muscle	rectum
47	chr16:75286400-75290400	Weak transcription	Fetal Brain Male	brain
48	chr16:75286400-75290800	Enhancers	Brain Cingulate Gyrus	brain
49	chr16:75286400-75291200	Enhancers	Fetal Muscle Leg	muscle
50	chr16:75286400-75293000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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