Variant report

Variant	rs143860914
Chromosome Location	chr1:227618177-227618178
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:227617113-227618192	K562	blood:	n/a	n/a
2	JUN	chr1:227616900-227618269	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
2	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
3	chr1:227421745..227423708-chr1:227616261..227618228,2	MCF-7	breast:
4	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF678-1	chr1:227617106-227618736	ENSG00000234277.2

No data

Variant related genes	Relation type
BTF3P9	TF binding region
ENSG00000242757	TF binding region
ENSG00000143776	Chromatin interaction
ENSG00000228729	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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv945335	chr1:227618159-227618832	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv2265134	chr1:227618177-227618179	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615200-227619400	Enhancers	Brain Hippocampus Middle	brain
2	chr1:227615200-227619600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:227615400-227619400	Enhancers	Brain Anterior Caudate	brain
5	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:227616000-227618200	Flanking Active TSS	HUVEC	blood vessel
8	chr1:227616000-227618400	Bivalent Enhancer	HepG2	liver
9	chr1:227616000-227618800	Enhancers	Brain Angular Gyrus	brain
10	chr1:227616000-227619200	Enhancers	Brain Substantia Nigra	brain
11	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:227616200-227618200	Enhancers	Small Intestine	intestine
13	chr1:227616200-227618200	Enhancers	Stomach Mucosa	stomach
14	chr1:227616200-227619400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:227616200-227619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:227616200-227620000	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:227616400-227618200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:227616400-227618200	Enhancers	NHLF	lung
19	chr1:227616400-227618400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:227616400-227618400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:227616400-227618400	Enhancers	Right Atrium	heart
22	chr1:227616400-227618600	Enhancers	Left Ventricle	heart
23	chr1:227616400-227618600	Enhancers	NH-A	brain
24	chr1:227616400-227618800	Enhancers	Placenta	Placenta
25	chr1:227616400-227620000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:227616400-227621000	Enhancers	Lung	lung
27	chr1:227616600-227619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:227616600-227619400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:227616800-227619400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:227616800-227619400	Weak transcription	Hela-S3	cervix
32	chr1:227617200-227618200	Flanking Active TSS	K562	blood
33	chr1:227617200-227619400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:227617400-227619200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:227617400-227619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:227617400-227619600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:227617400-227620800	Weak transcription	Spleen	Spleen
38	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:227617600-227618200	Flanking Active TSS	HSMMtube	muscle
40	chr1:227617600-227618800	Enhancers	HSMM	muscle
41	chr1:227617600-227619000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:227617600-227619200	Weak transcription	Right Ventricle	heart
43	chr1:227617600-227619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:227617600-227619400	Weak transcription	Gastric	stomach
45	chr1:227617600-227619400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:227617600-227619600	Weak transcription	Pancreas	Pancrea
47	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
50	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood

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