Variant report

Variant	rs575291930
Chromosome Location	chr1:180881279-180881280
allele	G/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	MAX	chr1:180881269-180881833	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
2	RAD21	chr1:180880914-180881462	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:180881252-180881293	ProgFib	skin:	n/a	n/a
4	TAF1	chr1:180881177-180881892	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr1:180881090-180881502	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr1:180881239-180881860	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
7	RELA	chr1:180880720-180881647	GM18951	blood:	n/a	chr1:180881341-180881350 chr1:180881341-180881350
8	E2F6	chr1:180880896-180881958	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
9	YY1	chr1:180881220-180881638	H1-hESC	embryonic stem cell:	n/a	chr1:180881434-180881443 chr1:180881327-180881341 chr1:180881431-180881440
10	POLR2A	chr1:180880961-180882409	GM15510	blood:	n/a	n/a
11	CTCF	chr1:180881220-180881370	HFF	foreskin:	n/a	n/a
12	BACH1	chr1:180881122-180882154	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr1:180881191-180881924	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
14	CTCF	chr1:180881200-180881350	GM06990	blood:	n/a	n/a
15	POLR2A	chr1:180881276-180882659	Gliobla	brain:	n/a	n/a
16	POLR2A	chr1:180880900-180882751	GM18526	blood:	n/a	n/a
17	CTCF	chr1:180881220-180881370	HBMEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:180880908-180882687	GM18951	blood:	n/a	n/a
19	CHD1	chr1:180881221-180881426	GM12878	blood:	n/a	n/a
20	EP300	chr1:180881198-180881343	GM12878	blood:	n/a	n/a
21	CTCF	chr1:180881200-180881350	GM12873	blood:	n/a	n/a
22	ZNF143	chr1:180881269-180881351	GM12878	blood:	n/a	n/a
23	SIN3A	chr1:180880808-180882632	H1-hESC	embryonic stem cell:	n/a	chr1:180881456-180881467 chr1:180882205-180882218 chr1:180882202-180882211 chr1:180881883-180881896 chr1:180882153-180882166
24	CTBP2	chr1:180880845-180882924	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:180881041-180882440	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:180881160-180881310	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:180880753-180882509	GM19193	blood:	n/a	n/a
28	MAX	chr1:180881264-180881943	ECC-1	luminal epithelium:	n/a	chr1:180881689-180881699
29	POLR2A	chr1:180880810-180882658	GM19099	blood:	n/a	n/a
30	TAF1	chr1:180881275-180881820	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAZ	chr1:180880823-180883145	IMR90	lung:	n/a	chr1:180882510-180882520 chr1:180881689-180881699
32	CTCF	chr1:180881265-180881359	GM19238	blood:	n/a	n/a
33	POLR2A	chr1:180880603-180882704	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr1:180881159-180881289	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:180880850-180882738	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr1:180880930-180881898	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr1:180880906-180881685	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr1:180881200-180881350	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180874718..180876670-chr1:180880822..180883224,2	K562	blood:
2	chr1:180879805..180882226-chr1:180894957..180896873,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1614	TF binding region
ENSG00000225857	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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3436549	chr1:180880954-180883502	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180879200-180881800	Weak transcription	A549	lung
2	chr1:180880600-180881400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:180880800-180881400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr1:180880800-180881400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:180880800-180881400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr1:180880800-180881400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
7	chr1:180880800-180881400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:180880800-180881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:180880800-180881400	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr1:180880800-180881400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr1:180880800-180881400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr1:180880800-180881400	Bivalent Enhancer	Small Intestine	intestine
13	chr1:180880800-180881400	Enhancers	Spleen	Spleen
14	chr1:180880800-180881400	Flanking Active TSS	NH-A	brain
15	chr1:180880800-180881400	Flanking Active TSS	NHLF	lung
16	chr1:180880800-180881600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr1:180880800-180881600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:180880800-180881800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:180880800-180881800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:180880800-180882200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr1:180880800-180882400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr1:180880800-180882400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:180880800-180882800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:180880800-180882800	Active TSS	Brain Angular Gyrus	brain
28	chr1:180880800-180882800	Active TSS	Fetal Brain Female	brain
29	chr1:180880800-180883000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:180880800-180883000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:180880800-180883200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr1:180880800-180883400	Active TSS	HSMM	muscle
33	chr1:180881000-180881400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
34	chr1:180881000-180881400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr1:180881000-180881400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr1:180881000-180881400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr1:180881000-180881400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:180881000-180881400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr1:180881000-180881400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:180881000-180881400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
41	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:180881000-180881600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr1:180881000-180881600	Flanking Active TSS	Placenta	Placenta
46	chr1:180881000-180881600	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr1:180881000-180881600	Flanking Active TSS	HUVEC	blood vessel
48	chr1:180881000-180881800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:180881000-180881800	Flanking Active TSS	Esophagus	oesophagus
50	chr1:180881000-180882200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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