Variant report

Variant	rs149512104
Chromosome Location	chr1:226249250-226249251
allele	A/C
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	POLR2A	chr1:226249047-226251609	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
3	CREB1	chr1:226249067-226250858	K562	blood:	n/a	n/a
4	MXI1	chr1:226248834-226251514	Hela-S3	cervix:	n/a	n/a
5	YY1	chr1:226249133-226251486	SK-N-SH	brain:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226250437-226250446 chr1:226250796-226250807 chr1:226250432-226250446 chr1:226250678-226250692 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226250013-226250022 chr1:226249561-226249569 chr1:226250412-226250420 chr1:226250442-226250451 chr1:226250678-226250687 chr1:226250799-226250808 chr1:226250972-226250984
6	BCLAF1	chr1:226249142-226250288	K562	blood:	n/a	chr1:226249777-226249790 chr1:226249655-226249668 chr1:226249771-226249784 chr1:226249778-226249791 chr1:226250007-226250016
7	PML	chr1:226249030-226251155	K562	blood:	n/a	n/a
8	POLR2A	chr1:226249112-226251663	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:226248810-226256763	K562	blood:	n/a	n/a
10	NFIC	chr1:226249138-226249953	HepG2	liver:	n/a	n/a
11	MTA3	chr1:226249141-226249704	GM12878	blood:	n/a	n/a
12	SMC3	chr1:226249106-226250838	Hela-S3	cervix:	n/a	chr1:226250669-226250683 chr1:226249498-226249505
13	POLR2A	chr1:226249126-226251671	K562	blood:	n/a	n/a
14	POLR2A	chr1:226249055-226251570	K562	blood:	n/a	n/a
15	ZC3H11A	chr1:226249196-226249844	K562	blood:	n/a	n/a
16	MAFK	chr1:226249020-226249909	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:226249009-226251573	HL-60	blood:	n/a	n/a
18	MAX	chr1:226249072-226250569	A549	lung:	n/a	n/a
19	SIN3A	chr1:226249154-226252868	H1-hESC	embryonic stem cell:	n/a	chr1:226250460-226250473 chr1:226249897-226249908
20	BACH1	chr1:226248969-226249540	K562	blood:	n/a	n/a
21	REST	chr1:226249212-226251489	HL-60	blood:	n/a	chr1:226250481-226250494 chr1:226249770-226249783 chr1:226250012-226250025 chr1:226250746-226250759
22	MAX	chr1:226249193-226251585	Hela-S3	cervix:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
23	UBTF	chr1:226249095-226252188	K562	blood:	n/a	n/a
24	MXI1	chr1:226248469-226253081	SK-N-SH	brain:	n/a	n/a
25	CHD2	chr1:226249206-226250906	K562	blood:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
26	TBP	chr1:226249239-226251701	K562	blood:	n/a	n/a
27	POLR2A	chr1:226248825-226250749	K562	blood:	n/a	n/a
28	TAF1	chr1:226249245-226251610	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr1:226248930-226251683	PANC-1	pancreas:	n/a	n/a
30	TBP	chr1:226248936-226249887	Hela-S3	cervix:	n/a	n/a
31	PML	chr1:226249130-226250274	GM12878	blood:	n/a	n/a
32	CHD1	chr1:226249186-226249802	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr1:226249160-226251587	ECC-1	luminal epithelium:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
34	POLR2A	chr1:226248882-226252317	Hela-S3	cervix:	n/a	n/a
35	FOSL2	chr1:226249216-226249751	A549	lung:	n/a	n/a
36	SMARCB1	chr1:226249221-226251546	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:226249043-226251559	SK-N-SH	brain:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
38	POLR2A	chr1:226248825-226251497	HepG2	liver:	n/a	n/a
39	TBL1XR1	chr1:226249184-226251017	K562	blood:	n/a	n/a
40	GTF2F1	chr1:226249071-226249535	Hela-S3	cervix:	n/a	n/a
41	STAT5A	chr1:226248846-226250015	K562	blood:	n/a	chr1:226249037-226249060
42	MAX	chr1:226249245-226251516	A549	lung:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
43	GTF2F1	chr1:226249132-226249956	K562	blood:	n/a	n/a
44	MXI1	chr1:226249166-226251735	IMR90	lung:	n/a	n/a
45	EP300	chr1:226248727-226250570	K562	blood:	n/a	chr1:226249804-226249813 chr1:226250435-226250444 chr1:226249779-226249795 chr1:226250165-226250174 chr1:226249473-226249489
46	ZNF274	chr1:226248726-226249791	K562	blood:	n/a	n/a
47	TAL1	chr1:226249048-226249933	K562	blood:	n/a	n/a
48	POLR2A	chr1:226249100-226250200	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:226249148-226251616	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr1:226249160-226249310	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226053730..226055639-chr1:226248303..226251048,2	MCF-7	breast:
2	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
3	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
4	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
5	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
6	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
7	chr1:226249145..226251355-chr5:138634621..138637026,2	MCF-7	breast:
8	chr1:144533790..144534425-chr1:226249029..226249552,2	Hela-S3	cervix:
9	chr1:226249205..226249806-chr7:16685776..16686578,2	Hela-S3	cervix:
10	chr1:226248937..226249745-chr3:135914572..135915298,2	Hela-S3	cervix:
11	chr1:226249163..226250085-chr19:59010196..59010725,2	Hela-S3	cervix:
12	chr1:226247090..226249451-chr1:226292552..226294249,2	K562	blood:
13	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
14	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
15	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
16	chr1:225964614..225966521-chr1:226248789..226250672,2	K562	blood:
17	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
18	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf55-1	chr1:226245769-226249546	NONHSAT009869

Variant related genes	Relation type
H3F3A	TF binding region
ENSG00000270598	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000199545	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000083807	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv3327023	chr1:226248854-226251702	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
2	chr1:226232200-226249400	Weak transcription	Gastric	stomach
3	chr1:226244000-226249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:226248200-226249400	Flanking Active TSS	Fetal Heart	heart
5	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:226248200-226249600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:226248600-226249400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:226248600-226249400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:226248600-226249400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:226248600-226249400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:226248600-226249400	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr1:226248600-226249400	Flanking Active TSS	A549	lung
15	chr1:226248600-226249400	Flanking Active TSS	K562	blood
16	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:226248600-226249800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:226248800-226249400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:226248800-226249400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:226248800-226249400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:226248800-226249400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:226248800-226249400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:226248800-226249400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:226248800-226249400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:226248800-226249400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:226248800-226249400	Flanking Active TSS	Liver	Liver
28	chr1:226248800-226249400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:226248800-226249400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:226248800-226249400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr1:226248800-226249400	Flanking Active TSS	Fetal Kidney	kidney
32	chr1:226248800-226249400	Flanking Active TSS	Fetal Lung	lung
33	chr1:226248800-226249400	Active TSS	Right Atrium	heart
34	chr1:226248800-226249400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:226248800-226249400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:226248800-226249400	Flanking Active TSS	Thymus	Thymus
37	chr1:226248800-226249400	Flanking Active TSS	Hela-S3	cervix
38	chr1:226248800-226249400	Flanking Active TSS	HUVEC	blood vessel
39	chr1:226248800-226249600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:226248800-226249600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr1:226248800-226249600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:226248800-226249600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:226248800-226249600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr1:226248800-226249600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:226248800-226249600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr1:226248800-226249600	Flanking Active TSS	Dnd41	blood
47	chr1:226248800-226252600	Active TSS	NH-A	brain
48	chr1:226248800-226252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:226248800-226252800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:226248800-226253000	Active TSS	NHLF	lung

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