Variant report

Variant	rs1043603
Chromosome Location	chr17:46059110-46059111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46058567..46060274-chr17:46094283..46095941,2	K562	blood:
2	chr17:46048621..46053225-chr17:46056317..46060413,5	K562	blood:
3	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
4	chr17:46047439..46051573-chr17:46055956..46059590,5	MCF-7	breast:
5	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
6	chr17:46048621..46050545-chr17:46057076..46059668,3	K562	blood:
7	chr17:46033345..46035913-chr17:46058791..46060752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000167183	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11654627	1.00[AMR][1000 genomes]
rs11655047	0.81[AMR][1000 genomes]
rs11657628	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049600-46059600	Weak transcription	Fetal Heart	heart
2	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
3	chr17:46050200-46060400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr17:46050200-46060400	Strong transcription	Osteobl	bone
5	chr17:46050200-46061800	Strong transcription	NHLF	lung
6	chr17:46050200-46062000	Strong transcription	NHEK	skin
7	chr17:46050200-46062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:46050200-46062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:46050200-46063000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr17:46050200-46063400	Strong transcription	Fetal Stomach	stomach
11	chr17:46050400-46060800	Strong transcription	Ovary	ovary
12	chr17:46050400-46061000	Strong transcription	A549	lung
13	chr17:46050400-46061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:46050400-46061400	Strong transcription	HepG2	liver
15	chr17:46050400-46062000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:46050400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:46050400-46063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:46050600-46061800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:46050600-46062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:46050600-46062200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:46050800-46059200	Strong transcription	Liver	Liver
22	chr17:46050800-46059200	Strong transcription	Spleen	Spleen
23	chr17:46050800-46059600	Strong transcription	Brain Anterior Caudate	brain
24	chr17:46050800-46060000	Strong transcription	Brain Angular Gyrus	brain
25	chr17:46050800-46060200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:46050800-46060200	Strong transcription	Adipose Nuclei	Adipose
27	chr17:46050800-46060200	Strong transcription	Gastric	stomach
28	chr17:46050800-46060800	Strong transcription	Lung	lung
29	chr17:46050800-46061000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr17:46050800-46061200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:46050800-46061600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46050800-46061600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:46050800-46061800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:46050800-46062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:46050800-46062000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr17:46050800-46062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:46050800-46062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:46050800-46062600	Strong transcription	Fetal Intestine Small	intestine
39	chr17:46050800-46062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:46050800-46063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:46050800-46063000	Strong transcription	Fetal Muscle Leg	muscle
42	chr17:46051000-46059400	Strong transcription	Fetal Intestine Large	intestine
43	chr17:46051000-46060000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:46051000-46060200	Strong transcription	Left Ventricle	heart
45	chr17:46051000-46060800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:46051000-46061000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr17:46051000-46061800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr17:46051000-46062000	Strong transcription	Primary B cells from cord blood	blood
49	chr17:46051000-46062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:46051000-46062200	Strong transcription	Placenta Amnion	Placenta Amnion

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