Variant report

Variant	rs544205786
Chromosome Location	chr1:165796056-165796057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
2	CUX1	chr1:165795973-165796565	K562	blood:	n/a	n/a
3	REST	chr1:165795832-165798785	H1-neurons	neurons:	n/a	chr1:165797611-165797624 chr1:165797587-165797600 chr1:165797285-165797295 chr1:165797599-165797612
4	POLR2A	chr1:165795985-165796120	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr1:165795817-165798746	IMR90	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
6	CHD1	chr1:165796053-165799451	IMR90	lung:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
3	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
4	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
5	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
6	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
7	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
8	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
9	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
10	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
11	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
12	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000172270	Chromatin interaction
ENSG00000236206	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3357226	chr1:165795953-165798501	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
3	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165792800-165796200	Weak transcription	Pancreas	Pancrea
5	chr1:165793800-165796200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:165793800-165796200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:165793800-165796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:165793800-165796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:165793800-165796200	Weak transcription	HSMM	muscle
12	chr1:165793800-165796200	Weak transcription	Osteobl	bone
13	chr1:165793800-165796400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:165794000-165796200	Weak transcription	NHDF-Ad	bronchial
15	chr1:165794200-165796200	Weak transcription	Aorta	Aorta
16	chr1:165795800-165796200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:165795800-165796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:165795800-165796200	Enhancers	Dnd41	blood
19	chr1:165795800-165796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:165795800-165796400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:165795800-165796400	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:165795800-165796600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:165796000-165796200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:165796000-165796200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:165796000-165796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:165796000-165796200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:165796000-165796200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:165796000-165796200	Enhancers	Primary B cells from cord blood	blood
29	chr1:165796000-165796200	Bivalent Enhancer	Primary T cells from cord blood	blood
30	chr1:165796000-165796200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:165796000-165796200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:165796000-165796200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:165796000-165796200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:165796000-165796200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:165796000-165796200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:165796000-165796200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:165796000-165796200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:165796000-165796200	Enhancers	Adipose Nuclei	Adipose
39	chr1:165796000-165796200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr1:165796000-165796200	Enhancers	Brain Germinal Matrix	brain
41	chr1:165796000-165796200	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:165796000-165796200	Enhancers	Fetal Intestine Large	intestine
43	chr1:165796000-165796200	Enhancers	Fetal Intestine Small	intestine
44	chr1:165796000-165796200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:165796000-165796200	Enhancers	Fetal Lung	lung
46	chr1:165796000-165796200	Enhancers	Fetal Muscle Leg	muscle
47	chr1:165796000-165796200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:165796000-165796200	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:165796000-165796200	Enhancers	A549	lung
50	chr1:165796000-165796200	Enhancers	GM12878-XiMat	blood

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