Variant report

Variant	rs34196129
Chromosome Location	chr6:143955749-143955750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143949730..143952887-chr6:143954270..143956854,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12192270	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12193892	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12197980	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12199447	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13191026	0.92[EUR][1000 genomes]
rs13195900	0.90[EUR][1000 genomes]
rs13199178	0.82[EUR][1000 genomes]
rs1338535	0.90[EUR][1000 genomes]
rs1539333	0.95[EUR][1000 genomes]
rs17291151	0.82[EUR][1000 genomes]
rs2328506	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2328507	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34775537	0.82[EUR][1000 genomes]
rs35286147	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35296418	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4424099	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56392216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67470559	0.92[EUR][1000 genomes]
rs6911970	0.90[EUR][1000 genomes]
rs7745970	0.90[EUR][1000 genomes]
rs7757372	0.88[EUR][1000 genomes]
rs9496699	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv517253	chr6:143953672-143975157	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34196129	LTV1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143939000-143955800	Weak transcription	Stomach Mucosa	stomach
3	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:143954400-143958200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:143955000-143955800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:143955000-143955800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:143955000-143956600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:143955200-143955800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:143955200-143956000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:143955200-143956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:143955200-143956200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:143955400-143956000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:143955400-143956200	Enhancers	NHEK	skin
14	chr6:143955600-143955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:143955600-143955800	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:143955600-143955800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:143955600-143956000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:143955600-143956000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:143955600-143956000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:143955600-143956000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:143955600-143956200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:143955600-143956200	Enhancers	HMEC	breast

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