Variant report

Variant	rs556935830
Chromosome Location	chr1:213030101-213030102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:213029909-213032745	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:213029953-213030302	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:213029989-213032779	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
3	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
4	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:
5	chr1:212965176..212966735-chr1:213030010..213031816,2	K562	blood:
6	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213029946-213030260	ENSG00000198468
2	lnc-C1orf227-1	chr1:213029946-213030514	ENSG00000198468
3	lnc-C1orf227-1	chr1:213028819-213030263	XLOC_001197
4	lnc-C1orf227-1	chr1:213029947-213030260	XLOC_001197
5	lnc-C1orf227-1	chr1:213029946-213030260	NONHSAT009410
6	lnc-C1orf227-1	chr1:213029946-213030514	NONHSAT009411

No data

Variant related genes	Relation type
FLVCR1	TF binding region
ENSG00000236317	TF binding region
ENSG00000185523	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000236317	Chromatin interaction
ENSG00000235182	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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
6	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
7	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:213026600-213030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:213026600-213030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:213026600-213030200	Weak transcription	Fetal Kidney	kidney
12	chr1:213026600-213030200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:213026600-213030200	Weak transcription	Spleen	Spleen
14	chr1:213026600-213030200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:213026600-213030200	Weak transcription	NHEK	skin
16	chr1:213026800-213030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:213027000-213030200	Weak transcription	Lung	lung
18	chr1:213027400-213030200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:213027400-213030200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:213027600-213030200	Weak transcription	Fetal Stomach	stomach
21	chr1:213027600-213030600	Weak transcription	HSMMtube	muscle
22	chr1:213027800-213030200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:213028200-213030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:213028400-213030400	Weak transcription	Liver	Liver
25	chr1:213028600-213030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:213028600-213030200	Weak transcription	Pancreas	Pancrea
27	chr1:213028600-213030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:213028800-213030200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:213028800-213030800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:213029600-213030600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:213029800-213030200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:213029800-213030200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:213029800-213030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:213029800-213030400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:213029800-213030400	Enhancers	Fetal Intestine Small	intestine
38	chr1:213029800-213030600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:213029800-213030800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:213029800-213030800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:213029800-213032000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:213030000-213030200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:213030000-213030200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:213030000-213030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:213030000-213030200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:213030000-213030200	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:213030000-213030200	Enhancers	Colon Smooth Muscle	Colon
48	chr1:213030000-213030200	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:213030000-213030200	Enhancers	Hela-S3	cervix
50	chr1:213030000-213030400	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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