Variant report

Variant	rs74114105
Chromosome Location	chr1:113618173-113618174
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	POLR2A	chr1:113618124-113618408	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113615006..113617589-chr1:113617756..113622024,6	MCF-7	breast:
2	chr1:113615878..113618493-chr1:113649795..113652119,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238198	TF binding region
ENSG00000238198	Chromatin interaction
ENSG00000198799	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55688637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59918989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113615200-113618200	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:113616800-113618200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr1:113616800-113619400	Weak transcription	Placenta	Placenta
4	chr1:113616800-113621400	Weak transcription	Lung	lung
5	chr1:113616800-113625600	Weak transcription	Esophagus	oesophagus
6	chr1:113616800-113638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:113617000-113618400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:113617000-113618400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:113617000-113618800	Enhancers	Fetal Thymus	thymus
10	chr1:113617000-113620200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:113617000-113620800	Weak transcription	Fetal Lung	lung
12	chr1:113617000-113630800	Weak transcription	Ovary	ovary
13	chr1:113617000-113636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:113617000-113636800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:113617000-113638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:113617000-113645800	Weak transcription	Aorta	Aorta
17	chr1:113617200-113618200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:113617200-113618200	Enhancers	Brain Germinal Matrix	brain
19	chr1:113617200-113618200	Enhancers	Fetal Heart	heart
20	chr1:113617200-113618400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113617200-113618400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:113617200-113618400	Enhancers	Adipose Nuclei	Adipose
23	chr1:113617200-113618400	Weak transcription	Fetal Stomach	stomach
24	chr1:113617200-113618400	Enhancers	Thymus	Thymus
25	chr1:113617200-113618400	Enhancers	HepG2	liver
26	chr1:113617200-113618400	Enhancers	HUVEC	blood vessel
27	chr1:113617200-113618600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:113617200-113618600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:113617200-113618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:113617200-113619000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:113617200-113619000	Enhancers	Fetal Brain Male	brain
32	chr1:113617200-113619000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:113617200-113619200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:113617200-113619200	Weak transcription	K562	blood
35	chr1:113617200-113619400	Weak transcription	Osteobl	bone
36	chr1:113617200-113619600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:113617200-113619600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:113617200-113619600	Enhancers	Colon Smooth Muscle	Colon
39	chr1:113617200-113619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:113617200-113619800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:113617200-113619800	Weak transcription	Left Ventricle	heart
42	chr1:113617200-113620000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:113617200-113620600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:113617200-113620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:113617200-113620800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:113617200-113620800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:113617200-113620800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:113617200-113620800	Weak transcription	NH-A	brain
49	chr1:113617200-113621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:113617200-113621000	Weak transcription	Brain Anterior Caudate	brain

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