Variant report

Variant	rs74111385
Chromosome Location	chr1:113541763-113541764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113541670..113543252-chr9:124968243..124969763,2	MCF-7	breast:
2	chr1:113493684..113495226-chr1:113539915..113542867,2	K562	blood:
3	chr1:113540112..113542991-chr1:113560118..113562958,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRIG2-4	chr1:113541552-113542118	ENSG00000226419
2	lnc-SLC16A1-4	chr1:113541027-113542835	ucscGeneNc_uc001edg_1
3	lnc-LRIG2-3	chr1:113541552-113542118	ENSG00000226419.2

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60182530	0.86[AFR][1000 genomes]
rs6668989	0.92[AFR][1000 genomes]
rs6676951	0.84[AFR][1000 genomes]
rs74111382	0.84[AFR][1000 genomes]
rs7535711	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113510800-113541800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:113511200-113545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
6	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:113517800-113542800	Weak transcription	Dnd41	blood
8	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
9	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
10	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
11	chr1:113529000-113554400	Weak transcription	Lung	lung
12	chr1:113533600-113555600	Weak transcription	Fetal Lung	lung
13	chr1:113534400-113548400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:113535400-113544200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:113535600-113543400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:113535600-113549200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:113535600-113552200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:113535600-113557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:113535800-113550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:113537000-113543000	Enhancers	Fetal Heart	heart
25	chr1:113537200-113554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:113537400-113546000	Weak transcription	NHLF	lung
27	chr1:113537400-113550400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:113537400-113554200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:113537600-113552800	Weak transcription	Fetal Thymus	thymus
30	chr1:113538400-113545200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:113538600-113542800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
33	chr1:113538800-113546000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:113539200-113547000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:113539800-113543200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:113540000-113542200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:113540000-113542400	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:113540000-113542800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:113540000-113542800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:113540000-113542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:113540000-113543200	Enhancers	Colon Smooth Muscle	Colon
43	chr1:113540200-113541800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:113540200-113542000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:113540200-113542000	Genic enhancers	Adipose Nuclei	Adipose
46	chr1:113540200-113542000	Enhancers	Brain Anterior Caudate	brain
47	chr1:113540200-113542000	Enhancers	Brain Hippocampus Middle	brain
48	chr1:113540200-113542000	Enhancers	Brain Substantia Nigra	brain
49	chr1:113540200-113542000	Enhancers	Fetal Intestine Large	intestine
50	chr1:113540200-113542000	Enhancers	HSMMtube	muscle

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