Variant report

Variant	rs17030758
Chromosome Location	chr4:102026137-102026138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17030759	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17030760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56240854	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6846905	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879669	chr4:101989816-102040091	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879670	chr4:101989816-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv879673	chr4:102002123-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv879674	chr4:102002123-102048076	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv879675	chr4:102009827-102043610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:101993000-102031600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:101994800-102029800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:101997800-102034600	Weak transcription	HepG2	liver
5	chr4:102000800-102032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:102002800-102030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:102015400-102033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:102019800-102029200	Weak transcription	Liver	Liver
9	chr4:102020200-102027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:102020400-102027000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:102022400-102026200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:102022800-102026200	Enhancers	Brain Hippocampus Middle	brain
13	chr4:102022800-102026200	Enhancers	HUVEC	blood vessel
14	chr4:102023000-102026200	Enhancers	NHLF	lung
15	chr4:102023000-102026200	Enhancers	Osteobl	bone
16	chr4:102023000-102026400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:102023200-102026200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:102023200-102026200	Enhancers	A549	lung
19	chr4:102023200-102026200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:102023400-102026200	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:102023400-102026200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:102023600-102026800	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:102023800-102026200	Enhancers	Fetal Kidney	kidney
24	chr4:102023800-102028400	Weak transcription	Lung	lung
25	chr4:102023800-102031600	Weak transcription	Fetal Stomach	stomach
26	chr4:102024000-102035600	Weak transcription	HMEC	breast
27	chr4:102024200-102027800	Weak transcription	Fetal Brain Female	brain
28	chr4:102024200-102029200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:102024400-102026200	Enhancers	Primary T cells from cord blood	blood
30	chr4:102024400-102026200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:102024600-102026200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:102024600-102026200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:102024600-102026400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:102024600-102032400	Weak transcription	Spleen	Spleen
35	chr4:102024800-102026200	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:102024800-102026800	Enhancers	Dnd41	blood
37	chr4:102024800-102036200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:102025000-102026200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:102025000-102028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:102025000-102031200	Weak transcription	Ovary	ovary
41	chr4:102025000-102036000	Weak transcription	Gastric	stomach
42	chr4:102025000-102036000	Weak transcription	NHEK	skin
43	chr4:102025000-102036200	Weak transcription	Pancreas	Pancrea
44	chr4:102025000-102036400	Weak transcription	NH-A	brain
45	chr4:102025000-102048200	Weak transcription	Left Ventricle	heart
46	chr4:102025200-102035600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:102025400-102026200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:102025400-102026200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:102025400-102026400	Enhancers	GM12878-XiMat	blood
50	chr4:102025400-102027000	Enhancers	Primary B cells from cord blood	blood

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