Variant report

Variant	rs199514
Chromosome Location	chr17:44856881-44856882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44854147..44858809-chr17:44869558..44873940,6	K562	blood:
2	chr17:44855566..44859051-chr17:44896605..44899961,3	K562	blood:
3	chr17:44848371..44851556-chr17:44854343..44857073,3	MCF-7	breast:
4	chr17:44854870..44856940-chr17:44861848..44864118,2	K562	blood:
5	chr17:44791299..44793121-chr17:44854894..44857732,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 76 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1378358	1.00[ASN][1000 genomes]
rs142167	0.84[CEU][hapmap]
rs169201	0.94[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183211	0.84[CEU][hapmap]
rs199436	0.84[CEU][hapmap]
rs199438	0.84[CEU][hapmap]
rs199439	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199442	0.84[CEU][hapmap]
rs199443	0.94[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199444	0.84[CEU][hapmap]
rs199445	0.94[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199447	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199448	0.94[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199449	0.84[CEU][hapmap]
rs199451	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199452	0.84[CEU][hapmap]
rs199453	0.84[CEU][hapmap]
rs199454	0.84[CEU][hapmap]
rs199455	0.90[CEU][hapmap]
rs199456	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199457	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199498	0.94[CEU][hapmap]
rs199499	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs199501	0.89[CEU][hapmap]
rs199502	0.86[EUR][1000 genomes]
rs199503	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199504	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199505	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199506	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199507	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199510	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199513	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199515	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199516	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs199520	0.88[CEU][hapmap]
rs199524	0.90[CEU][hapmap]
rs199525	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199526	0.87[EUR][1000 genomes]
rs199528	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199529	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199533	0.94[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199534	0.94[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199535	0.94[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199536	0.84[CEU][hapmap]
rs415430	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538628	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs70600	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70602	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs916888	1.00[ASN][1000 genomes]
rs9896243	0.94[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
18	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
19	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
20	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
21	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
22	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
23	esv1807468	chr17:44848517-44865439	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:76)

SNP	Gene	Cis/trans	Tissue	Source
rs199514	RP11-259G18.3	cis	Artery Aorta	GTEx
rs199514	KANSL1-AS1	cis	Whole Blood	GTEx
rs199514	LRRC37A17P	cis	Esophagus Mucosa	GTEx
rs199514	KANSL1-AS1	cis	Stomach	GTEx
rs199514	MAPT	cis	Frontal Cortex	GTEx
rs199514	LOC644246///LOC649063	cis	normal skin	skin_eQTL
rs199514	RP11-259G18.3	cis	Muscle Skeletal	GTEx
rs199514	RP11-259G18.2	cis	Thyroid	GTEx
rs199514	LRRC37A2	cis	Artery Aorta	GTEx
rs199514	LRRC37A2	cis	Esophagus Muscularis	GTEx
rs199514	RP11-259G18.3	cis	Esophagus Muscularis	GTEx
rs199514	LRRC37A2	cis	Esophagus Mucosa	GTEx
rs199514	LRRC37A2	cis	Muscle Skeletal	GTEx
rs199514	RP11-259G18.2	cis	lung	GTEx
rs199514	KANSL1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs199514	LRRC37A2	cis	Nerve Tibial	GTEx
rs199514	LRRC37A	cis	Artery Aorta	GTEx
rs199514	LRRC37A	cis	Frontal Cortex	GTEx
rs199514	LRRC37A2	cis	Adipose Subcutaneous	GTEx
rs199514	KANSL1-AS1	cis	Esophagus Mucosa	GTEx
rs199514	LRRC37A	cis	Esophagus Muscularis	GTEx
rs199514	KANSL1-AS1	cis	Heart Left Ventricle	GTEx
rs199514	LRRC37A2	cis	Skin Sun Exposed Lower leg	GTEx
rs199514	RP11-259G18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs199514	MAPK8IP1	cis	Cerebellum	GTEx
rs199514	LRRC37A2	cis	Whole Blood	GTEx
rs199514	LRRC37A	cis	Thyroid	GTEx
rs199514	RP11-259G18.3	cis	Whole Blood	GTEx
rs199514	KANSL1-AS1	cis	lung	GTEx
rs199514	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs199514	LRRC37A2	cis	lung	GTEx
rs199514	LRRC37A2	cis	Artery Tibial	GTEx
rs199514	LRRC37A4	Cis_chr	lymphoblastoid	RTeQTL
rs199514	RP11-259G18.2	cis	Nerve Tibial	GTEx
rs199514	KIAA1267	cis	normal skin	skin_eQTL
rs199514	KANSL1-AS1	cis	Artery Tibial	GTEx
rs199514	RP11-259G18.2	cis	Stomach	GTEx
rs199514	WNT3	cis	Thyroid	GTEx
rs199514	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs199514	KANSL1-AS1	cis	Muscle Skeletal	GTEx
rs199514	LOC644246	cis	uninvolved skin	skin_eQTL
rs199514	RP11-259G18.3	cis	Nerve Tibial	GTEx
rs199514	KIAA1267	cis	uninvolved skin	skin_eQTL
rs199514	RP11-259G18.3	cis	Heart Left Ventricle	GTEx
rs199514	LRRC37A2	cis	Stomach	GTEx
rs199514	RP11-259G18.3	cis	Esophagus Mucosa	GTEx
rs199514	RP11-259G18.3	cis	Artery Tibial	GTEx
rs199514	RP11-259G18.2	cis	Muscle Skeletal	GTEx
rs199514	LOC644246///LOC649063	cis	lesional skin	skin_eQTL
rs199514	KIAA1267	cis	lesional skin	skin_eQTL
rs199514	RP11-259G18.3	cis	Stomach	GTEx
rs199514	LRRC37A	cis	Nerve Tibial	GTEx
rs199514	RP11-259G18.2	cis	Heart Left Ventricle	GTEx
rs199514	RP11-259G18.2	cis	Esophagus Muscularis	GTEx
rs199514	LRRC37A	cis	Artery Tibial	GTEx
rs199514	MAPT	cis	Cerebellum	GTEx
rs199514	KANSL1-AS1	cis	Adipose Subcutaneous	GTEx
rs199514	LRRC37A	cis	Stomach	GTEx
rs199514	RP11-259G18.2	cis	Adipose Subcutaneous	GTEx
rs199514	KANSL1-AS1	cis	Nerve Tibial	GTEx
rs199514	RP11-259G18.3	cis	lung	GTEx
rs199514	LOC644246///LOC649063	cis	uninvolved skin	skin_eQTL
rs199514	RP11-259G18.3	cis	Thyroid	GTEx
rs199514	KANSL1-AS1	cis	Artery Aorta	GTEx
rs199514	RP11-259G18.2	cis	Whole Blood	GTEx
rs199514	RP11-259G18.3	cis	Adipose Subcutaneous	GTEx
rs199514	LRRC37A2	cis	Thyroid	GTEx
rs199514	RP11-259G18.2	cis	Esophagus Mucosa	GTEx
rs199514	RP11-259G18.2	cis	Artery Aorta	GTEx
rs199514	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs199514	KANSL1-AS1	cis	Esophagus Muscularis	GTEx
rs199514	LRRC37A	cis	Adipose Subcutaneous	GTEx
rs199514	LRRC37A	cis	lung	GTEx
rs199514	RP11-259G18.2	cis	Artery Tibial	GTEx
rs199514	RP11-259G18.3	cis	Skin Sun Exposed Lower leg	GTEx
rs199514	KANSL1-AS1	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44850000-44862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:44854800-44857000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr17:44854800-44859400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:44855200-44857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:44855200-44857000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:44855600-44859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:44855800-44857200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:44855800-44857600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr17:44855800-44862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:44856000-44857000	Enhancers	HSMMtube	muscle
11	chr17:44856200-44857000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr17:44856200-44857200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:44856200-44857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:44856600-44857200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr17:44856800-44857000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr17:44856800-44857000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:44856800-44857000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr17:44856800-44857200	Active TSS	Spleen	Spleen
19	chr17:44856800-44857600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:44856800-44857600	Flanking Active TSS	K562	blood
21	chr17:44856800-44857800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:44856800-44857800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:44856800-44859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:44856800-44861000	Weak transcription	Placenta	Placenta

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