Variant report

Variant	rs17030813
Chromosome Location	chr1:113494172-113494173
allele	C/T
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113459369..113469193-chr1:113493855..113500263,12	K562	blood:
2	chr1:113491230..113494579-chr1:113582129..113585862,4	K562	blood:
3	chr1:113476694..113481534-chr1:113488143..113494233,11	K562	blood:
4	chr1:113493197..113495739-chr1:113578263..113580046,3	K562	blood:
5	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
6	chr1:113492748..113494579-chr1:113582129..113585122,2	K562	blood:
7	chr1:113493684..113495226-chr1:113539915..113542867,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000229020	Chromatin interaction
ENSG00000198799	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1216795	0.82[ASW][hapmap]
rs1216809	0.82[ASW][hapmap]
rs17030827	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17493313	1.00[YRI][hapmap]
rs59903193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555465	0.82[ASW][hapmap]
rs9429504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946217	0.82[ASW][hapmap]

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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113466400-113496400	Weak transcription	Primary T cells from cord blood	blood
2	chr1:113467000-113495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:113467000-113497400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:113467200-113496400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:113468000-113496200	Weak transcription	Fetal Brain Female	brain
6	chr1:113468200-113495400	Weak transcription	Psoas Muscle	Psoas
7	chr1:113469800-113495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:113469800-113495600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:113469800-113497000	Weak transcription	Fetal Stomach	stomach
10	chr1:113473000-113495000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:113473000-113495400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:113481000-113495600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:113481000-113495600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:113481000-113496200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:113481000-113496200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:113481000-113496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:113481200-113495400	Weak transcription	Liver	Liver
18	chr1:113481200-113495600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:113481200-113496200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:113481200-113496200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:113481200-113496200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:113481200-113496200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:113481200-113496400	Weak transcription	A549	lung
24	chr1:113481400-113495200	Weak transcription	HMEC	breast
25	chr1:113481400-113495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:113481400-113496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:113481400-113496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:113481400-113496200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:113481400-113497000	Weak transcription	Osteobl	bone
30	chr1:113484200-113496200	Weak transcription	HSMMtube	muscle
31	chr1:113486000-113494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:113486000-113495000	Weak transcription	HSMM	muscle
33	chr1:113488600-113495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:113490600-113496200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:113491000-113495600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:113491000-113495600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:113491400-113496200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:113491400-113496400	Weak transcription	Right Atrium	heart
39	chr1:113491800-113496200	Enhancers	Fetal Heart	heart
40	chr1:113492600-113498000	Weak transcription	Pancreas	Pancrea
41	chr1:113492800-113494800	Enhancers	HepG2	liver
42	chr1:113493000-113496400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:113493200-113494200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:113493200-113494400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:113493200-113495400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:113493200-113495400	Genic enhancers	NHEK	skin
47	chr1:113493400-113494200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:113493400-113494800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:113493400-113496200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:113493400-113496400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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