Variant report

Variant	rs17409006
Chromosome Location	chr4:78729122-78729123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78706089..78707597-chr4:78727049..78729369,2	K562	blood:
2	chr4:78727559..78729935-chr4:78732783..78735387,2	MCF-7	breast:
3	chr4:78725207..78728407-chr4:78728574..78730602,3	K562	blood:
4	chr4:78727738..78737799-chr4:78737984..78742271,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6842277	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655642	0.80[AMR][1000 genomes];1.00[ASN][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78716400-78733400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:78718800-78738600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:78720600-78732000	Weak transcription	Aorta	Aorta
4	chr4:78720800-78735600	Weak transcription	HepG2	liver
5	chr4:78721000-78732400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:78722200-78738600	Weak transcription	HSMM	muscle
7	chr4:78722400-78734800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:78722600-78732000	Weak transcription	Thymus	Thymus
9	chr4:78722600-78735800	Weak transcription	A549	lung
10	chr4:78722600-78737800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:78722600-78737800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:78722600-78738600	Weak transcription	NHEK	skin
13	chr4:78722600-78739000	Weak transcription	Ovary	ovary
14	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:78722800-78732000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:78722800-78736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:78722800-78738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:78723000-78732000	Weak transcription	Right Atrium	heart
19	chr4:78723000-78732400	Weak transcription	Fetal Thymus	thymus
20	chr4:78723000-78732600	Enhancers	Primary T cells from cord blood	blood
21	chr4:78723000-78734800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:78723000-78738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:78723200-78738600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:78724000-78732000	Weak transcription	Dnd41	blood
25	chr4:78724000-78735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:78724000-78736000	Weak transcription	HUVEC	blood vessel
27	chr4:78724000-78736800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:78724200-78733600	Weak transcription	Primary B cells from cord blood	blood
29	chr4:78724400-78735600	Weak transcription	Liver	Liver
30	chr4:78724400-78738600	Weak transcription	Colonic Mucosa	Colon
31	chr4:78724800-78732800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:78724800-78738600	Weak transcription	Brain Substantia Nigra	brain
33	chr4:78725000-78732800	Weak transcription	Small Intestine	intestine
34	chr4:78725600-78731800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:78725600-78734800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:78725800-78736800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:78725800-78738600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr4:78727200-78731800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:78727200-78737800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:78727400-78732600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:78727400-78733000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:78727400-78735600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:78727400-78735800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:78727400-78735800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:78727600-78729600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:78727800-78732800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:78728000-78729200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:78728600-78731800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:78728600-78733800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr4:78728600-78738600	Weak transcription	Psoas Muscle	Psoas

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