Variant report

Variant	rs17030981
Chromosome Location	chr1:113630576-113630577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113618266..113620645-chr1:113628219..113630833,2	K562	blood:
2	chr1:113615251..113617139-chr1:113630347..113631964,2	K562	blood:
3	chr1:113629031..113632122-chr1:113632833..113640329,7	MCF-7	breast:
4	chr1:113497776..113499371-chr1:113628984..113630983,2	K562	blood:
5	chr1:113623954..113625982-chr1:113629801..113631439,2	K562	blood:

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000238198	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17030971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031010	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3925280	1.00[AMR][1000 genomes]
rs7531288	1.00[AMR][1000 genomes]
rs7531940	1.00[AMR][1000 genomes]
rs7553057	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113616800-113638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113617000-113630800	Weak transcription	Ovary	ovary
3	chr1:113617000-113636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:113617000-113636800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:113617000-113638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:113617000-113645800	Weak transcription	Aorta	Aorta
7	chr1:113617200-113631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:113617200-113631600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:113617200-113633800	Weak transcription	Liver	Liver
10	chr1:113617200-113635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:113617200-113636400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:113617200-113636400	Weak transcription	HSMMtube	muscle
13	chr1:113617200-113636400	Weak transcription	NHDF-Ad	bronchial
14	chr1:113617200-113642600	Weak transcription	A549	lung
15	chr1:113617400-113634600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:113617400-113638000	Weak transcription	NHLF	lung
17	chr1:113617800-113634600	Weak transcription	NHEK	skin
18	chr1:113617800-113637200	Weak transcription	Psoas Muscle	Psoas
19	chr1:113617800-113637800	Weak transcription	Spleen	Spleen
20	chr1:113617800-113638000	Weak transcription	Gastric	stomach
21	chr1:113618000-113634200	Weak transcription	Hela-S3	cervix
22	chr1:113618200-113631600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:113618200-113631600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:113618400-113631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:113618400-113634200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:113618400-113634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:113619000-113631200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:113619000-113633600	Weak transcription	HepG2	liver
29	chr1:113619400-113631400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:113619600-113630800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:113619600-113631600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:113619600-113636600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:113620000-113634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:113621200-113634600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:113621200-113634600	Weak transcription	NH-A	brain
36	chr1:113621200-113635000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:113621400-113631200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:113621400-113631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:113621400-113632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:113621600-113634600	Weak transcription	Fetal Lung	lung
41	chr1:113621800-113635600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:113622000-113631400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:113622000-113631600	Weak transcription	HSMM	muscle
44	chr1:113622000-113633800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:113622000-113634200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:113622000-113634200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:113622000-113634600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:113622000-113634600	Weak transcription	Fetal Thymus	thymus
49	chr1:113622000-113636000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:113622000-113636000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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