Variant report

Variant	rs17572231
Chromosome Location	chr1:184029993-184029994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184020124..184021848-chr1:184029858..184031651,2	MCF-7	breast:
2	chr1:184018296..184023402-chr1:184024617..184032965,15	MCF-7	breast:
3	chr1:184028059..184031900-chr1:184032004..184037501,5	K562	blood:
4	chr1:184029867..184031829-chr1:184043016..184044773,2	K562	blood:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11582961	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12402790	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs12734950	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12759837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56239295	0.92[EUR][1000 genomes]
rs765224	0.88[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17572231	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184021600-184030600	Weak transcription	Colonic Mucosa	Colon
2	chr1:184021600-184033200	Weak transcription	Pancreas	Pancrea
3	chr1:184021600-184050400	Weak transcription	Gastric	stomach
4	chr1:184021600-184055800	Weak transcription	Esophagus	oesophagus
5	chr1:184021800-184034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:184021800-184042000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:184022000-184035400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:184022000-184037600	Weak transcription	Right Ventricle	heart
9	chr1:184022000-184042000	Weak transcription	Psoas Muscle	Psoas
10	chr1:184022000-184043600	Weak transcription	Fetal Brain Male	brain
11	chr1:184022200-184044000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:184022200-184048800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:184022200-184053200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:184023000-184034600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:184023000-184037400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:184023000-184037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:184023000-184037600	Weak transcription	Brain Substantia Nigra	brain
18	chr1:184023000-184041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:184023000-184041400	Weak transcription	Liver	Liver
20	chr1:184023000-184044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:184023000-184044200	Weak transcription	HMEC	breast
22	chr1:184023000-184045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:184023400-184052000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:184023600-184044200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:184023800-184030400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:184024400-184045600	Weak transcription	Small Intestine	intestine
27	chr1:184024600-184038600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:184024600-184039200	Weak transcription	Lung	lung
29	chr1:184024600-184043800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:184024600-184044400	Weak transcription	Ovary	ovary
31	chr1:184024600-184063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:184024600-184069400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:184024600-184079400	Weak transcription	Thymus	Thymus
34	chr1:184024800-184031000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:184024800-184043200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:184024800-184043600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:184025400-184038000	Weak transcription	HUVEC	blood vessel
38	chr1:184025400-184043400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:184025400-184043800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:184026200-184033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:184026200-184033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:184026200-184037600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:184026400-184030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:184026400-184031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:184026400-184035800	Weak transcription	Placenta	Placenta
46	chr1:184026400-184044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:184026600-184030400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:184026600-184031400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:184026600-184037400	Weak transcription	Brain Angular Gyrus	brain
50	chr1:184026600-184043800	Weak transcription	Hela-S3	cervix

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