Variant report

Variant	rs2744958
Chromosome Location	chr6:34618356-34618357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
2	chr6:34380846..34383756-chr6:34617372..34620116,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs205283	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744957	0.81[EUR][1000 genomes]
rs2814992	0.81[EUR][1000 genomes]
rs2814995	0.81[EUR][1000 genomes]
rs9469835	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv7888	chr6:34615081-34622696	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2744958	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2744958	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2744958	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2744958	UHRF1BP1	cis	Whole Blood	GTEx
rs2744958	UHRF1BP1	cis	lung	GTEx
rs2744958	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2744958	UHRF1BP1	cis	Stomach	GTEx
rs2744958	UHRF1BP1	cis	Artery Aorta	GTEx
rs2744958	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
2	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:34575000-34618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:34577400-34618600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:34586000-34624200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:34587400-34624200	Weak transcription	Spleen	Spleen
9	chr6:34593000-34623600	Weak transcription	Colonic Mucosa	Colon
10	chr6:34598000-34620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:34598800-34619200	Weak transcription	NH-A	brain
12	chr6:34598800-34623200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:34599600-34618600	Weak transcription	HMEC	breast
14	chr6:34603600-34624000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:34606400-34621800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:34607400-34619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:34607400-34622000	Weak transcription	NHDF-Ad	bronchial
19	chr6:34608800-34623400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:34610200-34624000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:34610400-34623200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:34611800-34622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:34611800-34622600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:34611800-34622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:34612000-34622600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:34612200-34619000	Strong transcription	K562	blood
27	chr6:34612400-34625000	Weak transcription	Fetal Brain Male	brain
28	chr6:34613000-34621200	Weak transcription	HUVEC	blood vessel
29	chr6:34613000-34622000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:34613600-34618400	Weak transcription	Right Ventricle	heart
31	chr6:34613600-34621000	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:34613600-34624600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:34613600-34625000	Weak transcription	Esophagus	oesophagus
34	chr6:34613800-34621200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:34613800-34621200	Weak transcription	Osteobl	bone
36	chr6:34614000-34618400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:34614000-34619000	Weak transcription	Brain Anterior Caudate	brain
38	chr6:34614000-34619600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:34614000-34623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:34614000-34624200	Weak transcription	Fetal Kidney	kidney
41	chr6:34614000-34624600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:34614200-34622000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:34614200-34624400	Weak transcription	Fetal Brain Female	brain
44	chr6:34614400-34618600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:34614400-34618800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:34614400-34618800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:34614400-34620000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:34614400-34620400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:34614400-34621200	Weak transcription	Ovary	ovary
50	chr6:34614400-34623600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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