Variant report

Variant	rs17059253
Chromosome Location	chr4:174166946-174166947
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174088317..174091589-chr4:174165855..174169334,5	K562	blood:
2	chr4:174088317..174092756-chr4:174164502..174169334,5	K562	blood:
3	chr4:174165318..174167966-chr4:174170925..174173623,3	K562	blood:

Variant related genes	Relation type
ENSG00000109586	Chromatin interaction
ENSG00000245213	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10520258	1.00[CEU][hapmap]
rs11931487	1.00[CEU][hapmap]
rs11934228	1.00[CEU][hapmap]
rs17059216	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17059255	1.00[CEU][hapmap]
rs17059270	1.00[CEU][hapmap]
rs17059275	1.00[CEU][hapmap]
rs17059278	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4695828	1.00[CEU][hapmap]
rs6553687	1.00[CEU][hapmap]
rs6553691	1.00[CEU][hapmap]
rs6810397	1.00[CEU][hapmap]
rs6816923	1.00[CEU][hapmap]
rs6840087	1.00[CEU][hapmap]
rs6856630	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:174131800-174168600	Weak transcription	Gastric	stomach
4	chr4:174142200-174173400	Weak transcription	Lung	lung
5	chr4:174144200-174169000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:174148000-174173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:174150200-174173400	Weak transcription	Small Intestine	intestine
8	chr4:174151400-174171000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:174152600-174173400	Weak transcription	Left Ventricle	heart
10	chr4:174153000-174169200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:174153600-174171000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:174156600-174169000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:174156800-174169000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:174157400-174171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:174158000-174169000	Weak transcription	Fetal Stomach	stomach
16	chr4:174158000-174169200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:174158200-174172600	Weak transcription	K562	blood
18	chr4:174158600-174173000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:174158800-174172200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:174159200-174172600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:174159200-174172600	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:174159200-174175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:174159200-174204600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:174159600-174189000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:174159800-174169200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:174160800-174172400	Weak transcription	Brain Anterior Caudate	brain
27	chr4:174160800-174172600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:174162000-174168800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:174162000-174169400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:174163000-174168600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:174163200-174168200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:174163400-174168400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:174163800-174184600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:174164000-174169000	Weak transcription	Primary T cells from cord blood	blood
35	chr4:174164000-174173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:174164000-174177000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:174164000-174185600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:174164000-174185800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:174164000-174186000	Weak transcription	Aorta	Aorta
40	chr4:174164200-174171000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:174164200-174185400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:174164400-174168200	Enhancers	Dnd41	blood
43	chr4:174164600-174168600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:174164600-174168800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:174164800-174178800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:174165000-174171400	Weak transcription	NHLF	lung
47	chr4:174165000-174173200	Weak transcription	Hela-S3	cervix
48	chr4:174165200-174169400	Weak transcription	Stomach Mucosa	stomach
49	chr4:174165400-174169200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:174165400-174172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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