Variant report

Variant	rs61518356
Chromosome Location	chr1:174769807-174769808
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	chr1:174768282..174770482-chr1:174964486..174966155,2	MCF-7	breast:
2	chr1:174769617..174771382-chr1:174773976..174776245,2	K562	blood:

Variant related genes	Relation type
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57412303	0.93[AFR][1000 genomes]
rs73026465	1.00[AFR][1000 genomes]
rs73026467	1.00[AFR][1000 genomes]
rs73026480	0.86[AFR][1000 genomes]
rs73028359	0.92[AFR][1000 genomes]
rs73028389	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174768200-174770000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:174768200-174770400	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:174768400-174770000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:174768400-174770000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr1:174768400-174770000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:174768400-174770000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:174768400-174770000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:174768400-174770000	Active TSS	Brain Hippocampus Middle	brain
9	chr1:174768400-174770000	Active TSS	Ovary	ovary
10	chr1:174768400-174770000	Flanking Active TSS	HMEC	breast
11	chr1:174768400-174770000	Flanking Active TSS	NHEK	skin
12	chr1:174768400-174770400	Active TSS	Brain Substantia Nigra	brain
13	chr1:174768400-174770800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:174768400-174772000	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:174768400-174772200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:174768400-174772600	Active TSS	Brain Angular Gyrus	brain
17	chr1:174768400-174773000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:174768600-174770000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:174768600-174770000	Flanking Active TSS	Liver	Liver
20	chr1:174768600-174770000	Active TSS	Colonic Mucosa	Colon
21	chr1:174768600-174770800	Active TSS	Fetal Stomach	stomach
22	chr1:174768600-174771200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:174768600-174771200	Active TSS	Brain Germinal Matrix	brain
24	chr1:174768600-174771400	Active TSS	HSMMtube	muscle
25	chr1:174768600-174771600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:174768600-174772600	Active TSS	Brain Anterior Caudate	brain
27	chr1:174768800-174770000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:174768800-174770000	Active TSS	Colon Smooth Muscle	Colon
29	chr1:174768800-174770400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:174768800-174770400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:174768800-174770400	Active TSS	Fetal Kidney	kidney
32	chr1:174768800-174770800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr1:174768800-174770800	Active TSS	Fetal Brain Male	brain
34	chr1:174769000-174770000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:174769000-174770000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:174769000-174770400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:174769200-174770000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr1:174769200-174770000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:174769200-174770000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:174769200-174770000	Flanking Active TSS	Osteobl	bone
41	chr1:174769200-174770200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr1:174769400-174770000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:174769400-174770000	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr1:174769400-174770000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr1:174769400-174770000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:174769400-174770000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:174769400-174770000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:174769400-174770000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:174769400-174770000	Flanking Active TSS	Dnd41	blood
50	chr1:174769400-174770000	Flanking Active TSS	GM12878-XiMat	blood

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