Variant report

Variant	rs11932644
Chromosome Location	chr4:78718205-78718206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78717746..78719654-chr4:78721181..78723626,2	K562	blood:
2	chr4:78718062..78720658-chr4:78737788..78740227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1058746	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11935318	0.84[EUR][1000 genomes]
rs11941918	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11944704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1354100	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17002830	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17408624	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17409255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409708	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17409820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17410182	0.84[EUR][1000 genomes]
rs17416711	0.84[EUR][1000 genomes]
rs17448620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17448771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17449827	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17450307	0.81[EUR][1000 genomes]
rs17450474	0.84[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1801521	0.84[EUR][1000 genomes]
rs1915587	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1915588	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36124924	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6810599	0.84[EUR][1000 genomes]
rs6812768	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6815466	0.84[EUR][1000 genomes]
rs6816113	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6850795	0.84[EUR][1000 genomes]
rs6853446	0.84[EUR][1000 genomes]
rs7656101	0.84[EUR][1000 genomes]
rs7657481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657902	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7674271	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7687500	0.84[EUR][1000 genomes]
rs7699718	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
2	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
3	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
4	chr4:78698600-78720200	Weak transcription	Dnd41	blood
5	chr4:78701600-78721400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:78704800-78722200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:78705800-78720000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:78706200-78719800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:78707400-78720200	Weak transcription	Gastric	stomach
10	chr4:78709200-78721400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:78710200-78722000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:78711000-78722200	Weak transcription	Ovary	ovary
13	chr4:78711400-78722000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:78711600-78721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:78711600-78722200	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:78711800-78721800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:78712800-78722000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:78713600-78721600	Weak transcription	HUVEC	blood vessel
19	chr4:78714200-78720200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:78714200-78721200	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:78714200-78721600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:78714800-78719000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:78714800-78721400	Weak transcription	Small Intestine	intestine
24	chr4:78715000-78720000	Weak transcription	Psoas Muscle	Psoas
25	chr4:78716400-78722000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:78716400-78733400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:78716600-78718800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:78716600-78722000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:78716800-78719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:78716800-78720200	Weak transcription	Lung	lung
31	chr4:78716800-78721800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:78717000-78718800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:78717000-78719800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:78717200-78719000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:78717400-78719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:78717600-78719200	Enhancers	HMEC	breast
37	chr4:78717600-78720000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:78717600-78721400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:78717600-78722200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:78717800-78719000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:78717800-78719800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:78717800-78720200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:78717800-78721000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:78717800-78721400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:78717800-78721400	Weak transcription	Thymus	Thymus
46	chr4:78718000-78718400	Enhancers	Primary T cells from cord blood	blood
47	chr4:78718000-78718400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr4:78718000-78718800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:78718000-78719000	Enhancers	NHEK	skin
50	chr4:78718000-78719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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