Variant report

Variant	rs17179238
Chromosome Location	chr4:74006997-74006998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74004094..74008889-chr4:74121387..74125408,5	K562	blood:
2	chr4:73995274..73998139-chr4:74004294..74007420,3	K562	blood:
3	chr4:74004094..74009167-chr4:74119712..74126489,9	K562	blood:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2114149	1.00[CEU][hapmap]
rs2114150	1.00[CEU][hapmap]
rs2162206	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
2	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:73966000-74016800	Weak transcription	Psoas Muscle	Psoas
6	chr4:73969200-74030200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:73969600-74020000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
9	chr4:73971200-74020000	Strong transcription	Dnd41	blood
10	chr4:73971800-74022600	Strong transcription	Liver	Liver
11	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:73978800-74029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:73984600-74022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:73985000-74031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:73990800-74007200	Weak transcription	Fetal Brain Male	brain
16	chr4:73991000-74018400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:73993800-74018600	Strong transcription	Placenta	Placenta
18	chr4:73994800-74029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:73996200-74025000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:73996400-74020000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:73996400-74023000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr4:73996600-74020200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr4:73996600-74023000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:73996600-74025000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:73997000-74012800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:73997000-74023200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:73999000-74015400	Strong transcription	NH-A	brain
28	chr4:73999200-74022400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:73999400-74022600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:74000600-74018800	Strong transcription	HepG2	liver
31	chr4:74001400-74007400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:74001400-74015600	Strong transcription	Fetal Kidney	kidney
33	chr4:74002800-74016200	Strong transcription	NHDF-Ad	bronchial
34	chr4:74003000-74018600	Strong transcription	K562	blood
35	chr4:74003400-74015400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:74004000-74015400	Strong transcription	Fetal Brain Female	brain
37	chr4:74004000-74018800	Strong transcription	GM12878-XiMat	blood
38	chr4:74004000-74019800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:74004200-74021800	Strong transcription	HMEC	breast
40	chr4:74004400-74008200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:74004400-74008600	Strong transcription	Primary T cells from cord blood	blood
42	chr4:74004400-74019800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr4:74004600-74009200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:74004600-74015200	Strong transcription	Osteobl	bone
45	chr4:74004600-74017400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:74004600-74022400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:74004600-74022600	Strong transcription	Fetal Intestine Large	intestine
48	chr4:74004800-74008200	Strong transcription	Hela-S3	cervix
49	chr4:74004800-74008600	Strong transcription	A549	lung
50	chr4:74004800-74008800	Strong transcription	Rectal Mucosa Donor 31	rectum

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