Variant report

Variant	rs17030827
Chromosome Location	chr1:113517912-113517913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113497702..113502988-chr1:113515106..113520670,10	K562	blood:
2	chr1:113513681..113515239-chr1:113517369..113521086,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction
ENSG00000226419	Chromatin interaction

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

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

rs_ID	r²[population]
rs17030813	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17493313	0.84[YRI][hapmap]
rs59903193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429504	0.89[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	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
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113499600-113525600	Weak transcription	Spleen	Spleen
2	chr1:113500200-113524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:113500200-113528600	Weak transcription	Lung	lung
4	chr1:113500200-113529000	Weak transcription	Esophagus	oesophagus
5	chr1:113500400-113520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
7	chr1:113501000-113525600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:113502000-113520600	Weak transcription	Fetal Brain Male	brain
9	chr1:113503000-113519600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:113503600-113525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:113507600-113520800	Weak transcription	Fetal Heart	heart
12	chr1:113507600-113524400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:113508000-113520800	Weak transcription	Ovary	ovary
14	chr1:113510400-113520800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:113510600-113521600	Weak transcription	Fetal Brain Female	brain
16	chr1:113510600-113524600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:113510600-113537000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:113510800-113522200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:113510800-113541800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:113511000-113519800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:113511000-113525200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:113511000-113525600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:113511000-113528600	Weak transcription	Right Ventricle	heart
24	chr1:113511000-113531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:113511200-113519400	Weak transcription	A549	lung
26	chr1:113511200-113519800	Weak transcription	Placenta	Placenta
27	chr1:113511200-113521000	Weak transcription	HMEC	breast
28	chr1:113511200-113523200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:113511200-113523800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:113511200-113524600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:113511200-113524600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:113511200-113525400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:113511200-113525400	Weak transcription	Psoas Muscle	Psoas
34	chr1:113511200-113525600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:113511200-113525600	Weak transcription	Fetal Lung	lung
36	chr1:113511200-113525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:113511200-113525800	Weak transcription	Primary T cells from cord blood	blood
38	chr1:113511200-113528000	Weak transcription	NHEK	skin
39	chr1:113511200-113530000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:113511200-113538400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:113511200-113540000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:113511200-113540800	Weak transcription	HSMM	muscle
43	chr1:113511200-113545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
47	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:113511400-113520600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:113511400-113525400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:113511400-113526000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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