Variant report

Variant	rs1751848
Chromosome Location	chr4:2804476-2804477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2802998..2805170-chr4:2844898..2847427,2	MCF-7	breast:
2	chr4:2804056..2806985-chr4:2932653..2936211,3	K562	blood:
3	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
4	chr4:2802222..2807121-chr4:2932653..2939222,7	K562	blood:
5	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168884	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11933325	0.88[AFR][1000 genomes]
rs11947904	0.88[AFR][1000 genomes]
rs1623454	0.95[CHB][hapmap];0.84[CHD][hapmap]
rs1626813	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[MEX][hapmap]
rs1709003	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap]
rs172998	0.85[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1784148	0.89[CHD][hapmap]
rs182820	0.80[ASN][1000 genomes]
rs189139	0.86[CHB][hapmap]
rs190160	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2004190	0.87[AFR][1000 genomes]
rs231334	0.83[ASN][1000 genomes]
rs231339	0.99[ASN][1000 genomes]
rs231399	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs231402	0.91[CHB][hapmap]
rs3213501	0.83[CHD][hapmap]
rs365569	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs381101	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs382379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392479	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs408102	0.81[ASN][1000 genomes]
rs433030	0.83[CHD][hapmap]
rs438524	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs450080	0.81[CHD][hapmap]
rs6600770	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs743691	0.82[CHB][hapmap]
rs7677047	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active 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	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1751848	ADD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2796200-2813800	Enhancers	Left Ventricle	heart
2	chr4:2796600-2814600	Enhancers	Stomach Mucosa	stomach
3	chr4:2798400-2809600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:2801800-2809800	Enhancers	Fetal Intestine Large	intestine
5	chr4:2802200-2804800	Weak transcription	Small Intestine	intestine
6	chr4:2802200-2805200	Enhancers	Fetal Intestine Small	intestine
7	chr4:2802400-2804600	Enhancers	Placenta	Placenta
8	chr4:2802600-2806600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:2802800-2804800	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:2802800-2808400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:2802800-2808800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:2802800-2810200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:2803000-2808600	Enhancers	Fetal Muscle Leg	muscle
14	chr4:2803000-2810600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:2803200-2804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:2803200-2805400	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:2803200-2807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:2803200-2811600	Enhancers	Right Ventricle	heart
19	chr4:2803200-2813400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:2803400-2804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:2803400-2804600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:2803400-2804600	Weak transcription	Lung	lung
23	chr4:2803400-2804600	Weak transcription	Psoas Muscle	Psoas
24	chr4:2803400-2804600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:2803400-2804600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:2803400-2804600	Weak transcription	NHLF	lung
27	chr4:2803400-2804800	Enhancers	Brain Hippocampus Middle	brain
28	chr4:2803400-2805000	Enhancers	Primary B cells from peripheral blood	blood
29	chr4:2803400-2805000	Weak transcription	Right Atrium	heart
30	chr4:2803400-2805200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:2803400-2805400	Weak transcription	NHEK	skin
32	chr4:2803400-2805600	Weak transcription	HSMM	muscle
33	chr4:2803400-2806600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:2803400-2806600	Weak transcription	Pancreas	Pancrea
35	chr4:2803400-2807000	Weak transcription	A549	lung
36	chr4:2803400-2807200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:2803400-2807200	Enhancers	Adipose Nuclei	Adipose
38	chr4:2803400-2807200	Enhancers	Colonic Mucosa	Colon
39	chr4:2803400-2807200	Weak transcription	Ovary	ovary
40	chr4:2803400-2807200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:2803400-2807400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:2803400-2807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:2803400-2807600	Weak transcription	Brain Germinal Matrix	brain
44	chr4:2803400-2808200	Weak transcription	HSMMtube	muscle
45	chr4:2803400-2808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:2803400-2808400	Weak transcription	Thymus	Thymus
47	chr4:2803400-2808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:2803400-2808600	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:2803400-2808600	Weak transcription	Osteobl	bone
50	chr4:2803400-2811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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