Variant report

Variant	rs7748836
Chromosome Location	chr6:34638613-34638614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34600985..34603730-chr6:34637415..34639483,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1201872	0.82[ASN][1000 genomes]
rs13209544	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16892384	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892386	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs205261	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs205263	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs205264	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs205265	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs205266	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs205267	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs205284	0.82[ASN][1000 genomes]
rs34374374	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35286877	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35987776	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36032186	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs451263	0.85[ASN][1000 genomes]
rs451603	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6457784	0.84[ASN][1000 genomes]
rs66614727	0.81[EUR][1000 genomes]
rs6900426	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6909637	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937428	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72910111	0.82[ASN][1000 genomes]
rs7738377	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7764921	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765969	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461992	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461993	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9461994	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9461997	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462001	0.85[ASN][1000 genomes]
rs9462002	0.85[ASN][1000 genomes]
rs9462003	0.85[ASN][1000 genomes]
rs9469812	0.82[ASN][1000 genomes]
rs9469813	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469814	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469820	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469822	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469827	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9469832	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469836	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469837	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469838	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469840	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469842	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469843	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469847	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7748836	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs7748836	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:34627000-34639000	Weak transcription	Esophagus	oesophagus
7	chr6:34627200-34639000	Weak transcription	Psoas Muscle	Psoas
8	chr6:34628000-34641400	Weak transcription	Gastric	stomach
9	chr6:34631600-34639400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:34631800-34638800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:34632000-34639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:34632400-34638800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:34632600-34639200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:34632600-34639400	Weak transcription	Stomach Mucosa	stomach
15	chr6:34632600-34647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:34632800-34639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:34632800-34639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:34632800-34639400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:34632800-34639400	Weak transcription	HSMM	muscle
20	chr6:34632800-34639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:34632800-34640600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:34632800-34640600	Weak transcription	Brain Substantia Nigra	brain
23	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
24	chr6:34633000-34639000	Weak transcription	Fetal Thymus	thymus
25	chr6:34633000-34639000	Weak transcription	Right Atrium	heart
26	chr6:34633000-34639000	Weak transcription	Right Ventricle	heart
27	chr6:34633000-34639000	Weak transcription	NHDF-Ad	bronchial
28	chr6:34633000-34639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:34633000-34639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:34633000-34639800	Weak transcription	Thymus	Thymus
31	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
32	chr6:34633200-34641200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:34633400-34638800	Weak transcription	Left Ventricle	heart
34	chr6:34633400-34639000	Weak transcription	Spleen	Spleen
35	chr6:34633400-34639000	Weak transcription	Osteobl	bone
36	chr6:34633400-34639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:34633400-34641400	Weak transcription	Ovary	ovary
38	chr6:34633600-34638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:34633600-34639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:34633600-34639000	Weak transcription	Small Intestine	intestine
41	chr6:34633800-34638800	Weak transcription	Adipose Nuclei	Adipose
42	chr6:34634000-34638800	Weak transcription	Primary T cells from cord blood	blood
43	chr6:34634000-34638800	Weak transcription	NHLF	lung
44	chr6:34634000-34640000	Weak transcription	Dnd41	blood
45	chr6:34634200-34638800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:34634400-34638800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:34634400-34639000	Weak transcription	Pancreas	Pancrea
48	chr6:34634400-34641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:34634800-34639000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:34634800-34639000	Weak transcription	Colon Smooth Muscle	Colon

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