Variant report

Variant	rs55767704
Chromosome Location	chr1:165736689-165736690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165736624-165740514	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
3	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
4	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
5	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
6	chr1:165735880..165737855-chr1:165863441..165866125,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224358	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55720942	0.81[AFR][1000 genomes]
rs55869604	0.86[AFR][1000 genomes]
rs56126827	0.86[AFR][1000 genomes]
rs56207262	0.86[AFR][1000 genomes]
rs58958766	0.86[AFR][1000 genomes]
rs59221529	0.86[AFR][1000 genomes]
rs59334279	0.81[AFR][1000 genomes]
rs59679171	0.86[AFR][1000 genomes]
rs60421446	0.86[AFR][1000 genomes]
rs61131936	0.86[AFR][1000 genomes]
rs61190462	0.86[AFR][1000 genomes]
rs73014620	0.86[AFR][1000 genomes]
rs73014625	0.86[AFR][1000 genomes]
rs73014627	0.86[AFR][1000 genomes]
rs73014628	0.86[AFR][1000 genomes]
rs73014631	0.86[AFR][1000 genomes]
rs73014633	0.86[AFR][1000 genomes]
rs73014634	0.86[AFR][1000 genomes]
rs73014636	0.86[AFR][1000 genomes]
rs73014642	0.86[AFR][1000 genomes]
rs73014644	0.86[AFR][1000 genomes]
rs73014656	0.95[AFR][1000 genomes]
rs73014658	0.95[AFR][1000 genomes]
rs73014662	0.81[AFR][1000 genomes]
rs73014663	0.81[AFR][1000 genomes]
rs73014665	0.81[AFR][1000 genomes]
rs73014669	0.81[AFR][1000 genomes]
rs73022559	0.86[AFR][1000 genomes]
rs73022561	0.86[AFR][1000 genomes]
rs73022562	0.86[AFR][1000 genomes]
rs73022565	0.86[AFR][1000 genomes]
rs73022566	0.86[AFR][1000 genomes]
rs74121477	0.86[AFR][1000 genomes]
rs74121484	0.86[AFR][1000 genomes]
rs74121488	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
5	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
7	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
8	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
9	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
13	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:165726400-165736800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:165726800-165736800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:165726800-165737000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:165727000-165736800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:165727800-165737000	Weak transcription	Psoas Muscle	Psoas
19	chr1:165727800-165737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:165729200-165737200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:165730200-165736800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:165730200-165736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:165730200-165736800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:165730400-165736800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:165730400-165736800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:165731200-165736800	Weak transcription	Gastric	stomach
27	chr1:165732200-165736800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:165732200-165736800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:165732200-165736800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:165732200-165737000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:165732200-165737000	Strong transcription	Fetal Thymus	thymus
32	chr1:165732600-165736800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:165732600-165736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:165732600-165737000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:165732600-165737200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:165732800-165736800	Genic enhancers	Duodenum Mucosa	Duodenum
37	chr1:165732800-165737000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:165732800-165737400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:165733000-165736800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:165733000-165737000	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:165733000-165737200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:165733200-165737000	Strong transcription	Primary B cells from cord blood	blood
43	chr1:165733400-165736800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:165733400-165736800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:165733400-165736800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:165733400-165736800	Strong transcription	NH-A	brain
47	chr1:165733400-165737000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:165733400-165737000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:165733600-165737000	Strong transcription	Placenta	Placenta
50	chr1:165734000-165737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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