Variant report

Variant	rs577247677
Chromosome Location	chr1:213030671-213030672
allele	A/T
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	ZNF384	chr1:213030549-213031823	K562	blood:	n/a	n/a
2	POLR2A	chr1:213029909-213032745	GM12891	blood:	n/a	n/a
3	RCOR1	chr1:213030464-213032619	IMR90	lung:	n/a	n/a
4	RPC155	chr1:213030585-213031240	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:213030610-213031790	Hela-S3	cervix:	n/a	chr1:213030640-213030653 chr1:213030642-213030653 chr1:213030642-213030651
6	ZNF384	chr1:213030624-213031237	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:213030204-213032910	K562	blood:	n/a	n/a
8	POLR2A	chr1:213029989-213032779	GM12878	blood:	n/a	n/a
9	MXI1	chr1:213030544-213032747	SK-N-SH	brain:	n/a	n/a
10	GTF3C2	chr1:213030514-213031384	Hela-S3	cervix:	n/a	n/a
11	GTF3C2	chr1:213030159-213031388	K562	blood:	n/a	n/a
12	JUN	chr1:213030281-213032721	K562	blood:	n/a	chr1:213031526-213031535 chr1:213031462-213031471

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
4	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
5	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
6	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:
7	chr1:212965176..212966735-chr1:213030010..213031816,2	K562	blood:
8	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:

Variant related genes	Relation type
FLVCR1	TF binding region
ENSG00000236317	TF binding region
ENSG00000185523	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000235182	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000236317	Chromatin interaction
ENSG00000162772	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
2	chr1:213028800-213030800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:213029800-213030800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:213029800-213030800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:213029800-213032000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:213030000-213030800	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:213030000-213030800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:213030000-213030800	Enhancers	Colonic Mucosa	Colon
11	chr1:213030000-213031000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:213030000-213031200	Flanking Active TSS	Dnd41	blood
13	chr1:213030000-213032800	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:213030200-213030800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:213030200-213030800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:213030200-213030800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:213030200-213030800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:213030200-213030800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:213030200-213030800	Enhancers	Primary T cells from cord blood	blood
20	chr1:213030200-213030800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:213030200-213030800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:213030200-213030800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:213030200-213030800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:213030200-213030800	Enhancers	Fetal Stomach	stomach
25	chr1:213030200-213030800	Enhancers	Lung	lung
26	chr1:213030200-213030800	Enhancers	Pancreas	Pancrea
27	chr1:213030200-213030800	Enhancers	Small Intestine	intestine
28	chr1:213030200-213030800	Enhancers	Spleen	Spleen
29	chr1:213030200-213030800	Flanking Active TSS	Hela-S3	cervix
30	chr1:213030200-213031000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:213030200-213031000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:213030200-213031000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr1:213030200-213031000	Enhancers	Stomach Mucosa	stomach
34	chr1:213030200-213031200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:213030400-213030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:213030400-213030800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:213030400-213030800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:213030400-213030800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:213030400-213030800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:213030400-213030800	Enhancers	Liver	Liver
41	chr1:213030400-213030800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr1:213030400-213030800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr1:213030400-213030800	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:213030400-213030800	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr1:213030400-213030800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:213030400-213030800	Enhancers	Fetal Brain Male	brain
47	chr1:213030400-213030800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:213030400-213030800	Enhancers	Gastric	stomach
49	chr1:213030400-213030800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:213030400-213030800	Flanking Active TSS	K562	blood

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