Variant report

Variant	rs12603920
Chromosome Location	chr17:44830426-44830427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44830114..44832534-chr17:44845890..44849410,4	K562	blood:
2	chr17:44825152..44828455-chr17:44829776..44834617,4	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10491141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12325819	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12452215	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12937492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12947457	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs142167	0.94[ASN][1000 genomes]
rs16941674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183211	0.94[ASN][1000 genomes]
rs199436	0.94[ASN][1000 genomes]
rs199437	0.91[ASN][1000 genomes]
rs199438	0.94[ASN][1000 genomes]
rs199442	0.97[ASN][1000 genomes]
rs199444	0.97[ASN][1000 genomes]
rs199446	0.97[ASN][1000 genomes]
rs199449	0.97[ASN][1000 genomes]
rs199452	0.94[ASN][1000 genomes]
rs199453	0.94[ASN][1000 genomes]
rs199454	0.94[ASN][1000 genomes]
rs199455	0.94[ASN][1000 genomes]
rs199517	0.93[ASN][1000 genomes]
rs199518	0.93[ASN][1000 genomes]
rs199519	0.95[ASN][1000 genomes]
rs199520	0.95[ASN][1000 genomes]
rs199521	0.95[ASN][1000 genomes]
rs199523	0.95[ASN][1000 genomes]
rs199524	0.95[ASN][1000 genomes]
rs199526	0.95[ASN][1000 genomes]
rs199527	0.91[ASN][1000 genomes]
rs199530	0.98[ASN][1000 genomes]
rs199531	0.99[ASN][1000 genomes]
rs199536	0.97[ASN][1000 genomes]
rs2316278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34565941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34720194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141293	0.96[ASN][1000 genomes]
rs4246416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968239	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62074082	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503809	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67143796	0.96[ASN][1000 genomes]
rs67474242	0.96[ASN][1000 genomes]
rs7216231	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7224296	0.94[ASN][1000 genomes]
rs7226263	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72628337	0.96[ASN][1000 genomes]
rs72628338	0.88[ASN][1000 genomes]
rs8065602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902077	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9912530	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv431729	chr17:44144214-44869063	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	54 gene(s)	inside rSNPs	diseases
4	esv2757660	chr17:44162284-44868187	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv431805	chr17:44165803-44868430	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv916432	chr17:44223908-44873614	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv1819056	chr17:44391822-44873614	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
12	esv1844763	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv428343	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1806073	chr17:44443111-44873614	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	esv1850605	chr17:44537030-44913631	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	esv1792649	chr17:44627136-44849634	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv1820936	chr17:44629166-44848916	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv1812673	chr17:44648058-44849188	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	esv1818423	chr17:44648058-44849634	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
21	esv1805955	chr17:44654416-44849188	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	esv1818944	chr17:44662268-44859144	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
23	nsv471402	chr17:44668038-44834833	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
24	esv1796587	chr17:44680207-44849634	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
25	esv1803101	chr17:44680207-44849634	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
26	esv1803756	chr17:44680207-44865439	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
27	nsv833465	chr17:44706496-44889749	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
28	esv1843460	chr17:44732200-44913631	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
29	esv1810528	chr17:44814884-44849634	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
30	esv1845488	chr17:44816132-44849634	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
31	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:44789200-44833200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:44793600-44842200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:44798600-44832400	Weak transcription	Psoas Muscle	Psoas
5	chr17:44798600-44833200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:44798600-44833200	Weak transcription	Gastric	stomach
7	chr17:44798600-44841800	Weak transcription	Right Ventricle	heart
8	chr17:44814400-44839000	Weak transcription	Fetal Brain Female	brain
9	chr17:44818600-44832600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:44818800-44842200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:44819200-44841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:44820200-44833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:44820200-44834200	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:44820600-44835400	Weak transcription	Stomach Mucosa	stomach
15	chr17:44820600-44844400	Weak transcription	Small Intestine	intestine
16	chr17:44820800-44840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:44820800-44841800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:44821000-44830800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:44821000-44832200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:44821000-44832200	Weak transcription	A549	lung
21	chr17:44821000-44834800	Weak transcription	Hela-S3	cervix
22	chr17:44821200-44841000	Weak transcription	NH-A	brain
23	chr17:44821200-44841800	Weak transcription	NHLF	lung
24	chr17:44821400-44831800	Weak transcription	NHDF-Ad	bronchial
25	chr17:44822200-44832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:44822400-44837600	Strong transcription	Primary T cells from cord blood	blood
27	chr17:44823400-44837600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr17:44824400-44836600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr17:44825200-44837400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:44825600-44834800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:44825600-44837200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:44825600-44837400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:44825600-44837600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:44825800-44834400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:44825800-44836400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr17:44826000-44834600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:44826200-44841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:44826400-44836400	Strong transcription	Placenta	Placenta
39	chr17:44826600-44832600	Weak transcription	HUVEC	blood vessel
40	chr17:44826600-44834800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:44826600-44837400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:44826800-44833400	Strong transcription	HSMMtube	muscle
43	chr17:44826800-44833600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:44826800-44834600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:44826800-44834800	Strong transcription	Dnd41	blood
46	chr17:44826800-44837600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:44827000-44834400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:44827000-44834400	Strong transcription	Osteobl	bone
49	chr17:44827000-44837200	Strong transcription	Adipose Nuclei	Adipose
50	chr17:44827200-44834400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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