Variant report

Variant	rs10008441
Chromosome Location	chr4:129788909-129788910
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129787325..129790041-chr4:129799398..129801047,2	K562	blood:
2	chr4:129729294..129734540-chr4:129782960..129791658,9	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10006958	0.85[AFR][1000 genomes]
rs10014385	1.00[AMR][1000 genomes]
rs10015538	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026447	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028545	1.00[AMR][1000 genomes]
rs28430630	0.85[AFR][1000 genomes]
rs28583676	0.85[AFR][1000 genomes]
rs28707598	0.85[AFR][1000 genomes]
rs28823671	1.00[AMR][1000 genomes]
rs9307610	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9991702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994585	0.87[AFR][1000 genomes]
rs9996611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv4504	chr4:129777368-129803959	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129773200-129794000	Strong transcription	K562	blood
4	chr4:129776400-129796200	Strong transcription	Dnd41	blood
5	chr4:129779600-129809800	Weak transcription	Small Intestine	intestine
6	chr4:129779800-129793200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:129783400-129789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:129783400-129800600	Weak transcription	Fetal Kidney	kidney
9	chr4:129783600-129789600	Weak transcription	HMEC	breast
10	chr4:129784000-129789800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:129784200-129790000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:129784200-129790800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:129784400-129792000	Weak transcription	Colonic Mucosa	Colon
14	chr4:129784400-129792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:129784400-129799200	Weak transcription	Fetal Brain Male	brain
16	chr4:129784600-129789800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:129784600-129791000	Weak transcription	Esophagus	oesophagus
18	chr4:129784600-129791400	Weak transcription	Spleen	Spleen
19	chr4:129784600-129792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:129784600-129794000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:129784600-129795000	Strong transcription	Primary B cells from cord blood	blood
22	chr4:129784600-129798400	Strong transcription	Fetal Thymus	thymus
23	chr4:129784800-129789200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:129784800-129789600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:129784800-129789600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:129784800-129789600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:129784800-129789800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:129784800-129789800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:129784800-129789800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:129784800-129789800	Strong transcription	Osteobl	bone
31	chr4:129784800-129791400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:129784800-129791400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:129784800-129792000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:129784800-129792000	Strong transcription	NHLF	lung
35	chr4:129784800-129792600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:129784800-129792600	Weak transcription	Psoas Muscle	Psoas
37	chr4:129784800-129792600	Weak transcription	Right Ventricle	heart
38	chr4:129784800-129792800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:129784800-129792800	Strong transcription	NH-A	brain
40	chr4:129784800-129794400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr4:129784800-129795200	Strong transcription	Primary T cells from cord blood	blood
42	chr4:129784800-129795400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:129784800-129795800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:129784800-129796800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr4:129784800-129798400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:129785000-129789200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:129785000-129789800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:129785000-129791200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:129785000-129794200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr4:129785000-129794200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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