Variant report

Variant	rs13398914
Chromosome Location	chr2:127436642-127436643
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	POLR2A	chr2:127435922-127440609	K562	blood:	n/a	n/a
2	MAFF	chr2:127436526-127436719	HepG2	liver:	n/a	chr2:127436644-127436662
3	MAFK	chr2:127436580-127436667	HepG2	liver:	n/a	chr2:127436581-127436596 chr2:127436646-127436661
4	MAFK	chr2:127436526-127436772	HepG2	liver:	n/a	chr2:127436581-127436596 chr2:127436646-127436661

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:

Variant related genes	Relation type
ENSG00000235128	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10166038	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13395599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17741655	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28387126	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28387130	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28387137	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28387146	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28387172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28387177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28387184	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3325322	chr2:127432782-127437080	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
3	chr2:127424200-127451000	Weak transcription	NHLF	lung
4	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
6	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
8	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
9	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
10	chr2:127433400-127439400	Weak transcription	Left Ventricle	heart
11	chr2:127433600-127437400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:127433800-127437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:127433800-127438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:127433800-127441000	Weak transcription	GM12878-XiMat	blood
16	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:127434000-127441200	Weak transcription	Fetal Lung	lung
18	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:127434200-127436800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:127434200-127437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:127434400-127445400	Strong transcription	Fetal Stomach	stomach
25	chr2:127434600-127439400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:127434800-127436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:127434800-127437000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127434800-127437600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:127434800-127439000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:127434800-127439600	Weak transcription	Esophagus	oesophagus
31	chr2:127434800-127441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
34	chr2:127435000-127438200	Weak transcription	Ovary	ovary
35	chr2:127435000-127445800	Weak transcription	Gastric	stomach
36	chr2:127435200-127437600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:127435200-127437600	Weak transcription	Primary B cells from cord blood	blood
38	chr2:127435200-127438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:127435200-127444600	Weak transcription	Pancreas	Pancrea
40	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
41	chr2:127435400-127439400	Weak transcription	Right Ventricle	heart
42	chr2:127435400-127441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:127435400-127443200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
45	chr2:127435600-127436800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:127435600-127444800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:127435800-127440400	Strong transcription	K562	blood
48	chr2:127435800-127444600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:127436000-127436800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:127436000-127436800	Enhancers	Skeletal Muscle Female	skeletal muscle

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