Variant report

Variant	rs61976816
Chromosome Location	chr14:31498410-31498411
allele	A/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	GATA1	chr14:31498275-31499352	PBDE	blood:	n/a	chr14:31499163-31499172 chr14:31499162-31499172
2	POLR2A	chr14:31498355-31498532	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31482144..31489136-chr14:31492335..31498565,14	MCF-7	breast:
2	chr14:31494421..31497177-chr14:31497587..31499577,3	K562	blood:

Variant related genes	Relation type
STRN3	TF binding region
ENSG00000196792	Chromatin interaction
ENSG00000207952	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000258968	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11156656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12100679	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2295130	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2295131	0.86[ASN][1000 genomes]
rs28362787	0.85[AMR][1000 genomes]
rs61976768	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61976769	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976774	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61976777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61976802	0.86[ASN][1000 genomes]
rs61976804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61976805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61976819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61976820	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61976821	0.90[EUR][1000 genomes]
rs7142163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142712	0.90[EUR][1000 genomes]
rs7150310	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496200-31500800	Weak transcription	Small Intestine	intestine
2	chr14:31496600-31500800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31496600-31500800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:31496600-31500800	Weak transcription	Stomach Mucosa	stomach
5	chr14:31496600-31505800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:31496600-31507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
9	chr14:31496800-31498800	Enhancers	GM12878-XiMat	blood
10	chr14:31496800-31499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:31496800-31500800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:31496800-31500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:31496800-31500800	Weak transcription	Gastric	stomach
14	chr14:31496800-31500800	Weak transcription	NH-A	brain
15	chr14:31496800-31501800	Weak transcription	Pancreas	Pancrea
16	chr14:31496800-31502400	Weak transcription	Ovary	ovary
17	chr14:31496800-31505800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:31496800-31507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:31496800-31507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:31496800-31508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:31496800-31508600	Weak transcription	Lung	lung
22	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
23	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
24	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
27	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:31497000-31499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:31497000-31499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:31497000-31499600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:31497000-31499600	Weak transcription	Fetal Lung	lung
32	chr14:31497000-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:31497000-31500800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:31497000-31500800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:31497000-31501600	Weak transcription	Liver	Liver
36	chr14:31497000-31502000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:31497000-31502000	Weak transcription	HSMM	muscle
38	chr14:31497000-31502200	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:31497000-31502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:31497000-31502400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:31497000-31502600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:31497000-31502800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:31497000-31505800	Weak transcription	Fetal Stomach	stomach
44	chr14:31497000-31506200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:31497000-31506400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:31497000-31507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
50	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney

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