Variant report

Variant	rs4417984
Chromosome Location	chr4:129047870-129047871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129046898..129050196-chr4:129053286..129057187,3	K562	blood:
2	chr4:129042962..129045352-chr4:129047629..129050110,2	K562	blood:
3	chr4:129045158..129047932-chr4:129051472..129053160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001690	1.00[CHD][hapmap]
rs10025241	0.94[AFR][1000 genomes]
rs13106597	1.00[CHD][hapmap]
rs15388	1.00[CHD][hapmap]
rs17393302	1.00[CHD][hapmap]
rs28874982	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516804	1.00[CHD][hapmap]
rs7683160	1.00[AMR][1000 genomes]

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	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
7	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
11	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
2	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
3	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:128997000-129054200	Weak transcription	Right Ventricle	heart
5	chr4:129000200-129066600	Weak transcription	Colonic Mucosa	Colon
6	chr4:129003600-129078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:129003800-129056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:129003800-129066400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:129007800-129076400	Weak transcription	Gastric	stomach
10	chr4:129014400-129051400	Weak transcription	Fetal Kidney	kidney
11	chr4:129014400-129066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:129016600-129048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:129018800-129083400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:129020200-129051600	Weak transcription	Psoas Muscle	Psoas
15	chr4:129020400-129076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129020400-129076600	Weak transcription	Pancreas	Pancrea
17	chr4:129020800-129066600	Weak transcription	Primary T cells from cord blood	blood
18	chr4:129021400-129076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:129021800-129051600	Weak transcription	NHEK	skin
20	chr4:129022400-129066400	Weak transcription	Left Ventricle	heart
21	chr4:129023200-129062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:129024800-129066600	Weak transcription	HSMM	muscle
23	chr4:129025800-129056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:129025800-129066600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:129026000-129062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:129026000-129066400	Weak transcription	Aorta	Aorta
27	chr4:129026600-129055400	Weak transcription	NH-A	brain
28	chr4:129026600-129066400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:129026600-129066600	Weak transcription	Fetal Lung	lung
30	chr4:129029400-129066200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:129029800-129066400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:129030600-129075000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:129031400-129055000	Weak transcription	Fetal Stomach	stomach
34	chr4:129033000-129052000	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:129034800-129066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:129035600-129068200	Weak transcription	NHDF-Ad	bronchial
37	chr4:129035800-129062800	Weak transcription	Osteobl	bone
38	chr4:129035800-129080800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:129042400-129048000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:129042400-129049000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:129042600-129062800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:129042800-129052600	Weak transcription	Fetal Intestine Small	intestine
43	chr4:129043000-129048400	Strong transcription	Liver	Liver
44	chr4:129043000-129049600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:129043600-129050200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:129044000-129053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:129044000-129055200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:129044400-129051600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:129044600-129075000	Weak transcription	HepG2	liver
50	chr4:129045400-129055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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