Variant report

Variant	rs187242008
Chromosome Location	chr1:165799361-165799362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

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	ZNF384	chr1:165799322-165799406	K562	blood:	n/a	n/a
3	WRNIP1	chr1:165798265-165799442	GM12878	blood:	n/a	n/a
4	CHD1	chr1:165796053-165799451	IMR90	lung:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
2	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
3	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
4	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
5	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
6	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
7	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
8	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
9	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
10	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
11	chr1:165798709..165800702-chr6:26239289..26241961,2	MCF-7	breast:
12	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
13	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
14	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

No data

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000215838	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796400-165799400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165796400-165799400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:165796400-165799400	Active TSS	HSMMtube	muscle
4	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
5	chr1:165796600-165799400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:165796600-165799400	Active TSS	NHLF	lung
7	chr1:165797800-165799400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:165798400-165802200	Weak transcription	Left Ventricle	heart
9	chr1:165798600-165799400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:165798600-165799400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:165798600-165799400	Flanking Active TSS	Fetal Brain Female	brain
12	chr1:165798600-165799400	Enhancers	Small Intestine	intestine
13	chr1:165798600-165799400	Enhancers	Stomach Mucosa	stomach
14	chr1:165798600-165799400	Flanking Active TSS	NHEK	skin
15	chr1:165798600-165801000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr1:165798600-165802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:165798800-165799400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:165798800-165799400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:165798800-165799400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:165798800-165799400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:165798800-165799400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:165798800-165799400	Enhancers	Pancreas	Pancrea
24	chr1:165798800-165799400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:165798800-165799400	Flanking Active TSS	Hela-S3	cervix
26	chr1:165798800-165799400	Flanking Active TSS	HMEC	breast
27	chr1:165798800-165799400	Flanking Active TSS	HSMM	muscle
28	chr1:165798800-165799400	Flanking Active TSS	K562	blood
29	chr1:165798800-165801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:165798800-165802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:165798800-165802400	Weak transcription	Lung	lung
32	chr1:165798800-165802600	Weak transcription	Ovary	ovary
33	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
36	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
37	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:165799000-165799400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:165799000-165799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:165799000-165799400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:165799000-165799400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:165799000-165799400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:165799000-165799400	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:165799000-165799400	Enhancers	Fetal Heart	heart
45	chr1:165799000-165799400	Enhancers	Right Ventricle	heart
46	chr1:165799000-165799400	Enhancers	HUVEC	blood vessel
47	chr1:165799000-165799400	Enhancers	Osteobl	bone
48	chr1:165799000-165799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:165799000-165800200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:165799000-165800600	Enhancers	Fetal Brain Male	brain

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