Variant report

Variant	rs6692277
Chromosome Location	chr1:150738557-150738558
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	POLR2A	chr1:150737927-150738563	GM12878	blood:	n/a	n/a
2	SPI1	chr1:150737720-150738753	GM12878	blood:	n/a	chr1:150738311-150738320 chr1:150738308-150738321 chr1:150738309-150738322
3	SPI1	chr1:150737929-150738561	GM12891	blood:	n/a	chr1:150738311-150738320 chr1:150738308-150738321 chr1:150738309-150738322
4	SPI1	chr1:150737631-150738761	HL-60	blood:	n/a	chr1:150738311-150738320 chr1:150738308-150738321 chr1:150738309-150738322
5	POLR2A	chr1:150737997-150738567	GM12891	blood:	n/a	n/a
6	STAT3	chr1:150737899-150738606	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:150738196-150738566	K562	blood:	n/a	n/a
8	ATF2	chr1:150737922-150738587	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:150737896-150738560	GM12892	blood:	n/a	n/a
10	CUX1	chr1:150737845-150738567	K562	blood:	n/a	n/a
11	REST	chr1:150737995-150738562	HL-60	blood:	n/a	n/a
12	POLR2A	chr1:150737985-150738649	U87	brain:	n/a	n/a
13	IRF1	chr1:150737923-150738560	K562	blood:	n/a	chr1:150738275-150738289 chr1:150738332-150738346 chr1:150738314-150738323 chr1:150738329-150738343 chr1:150738327-150738347 chr1:150738329-150738339
14	CREB1	chr1:150737954-150738573	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:150737939-150738572	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:150738029-150738609	Raji	blood:	n/a	n/a
17	POLR2A	chr1:150737937-150738570	GM12892	blood:	n/a	n/a
18	NFIC	chr1:150737745-150738606	GM12878	blood:	n/a	n/a
19	SPI1	chr1:150738000-150738599	GM12891	blood:	n/a	chr1:150738311-150738320 chr1:150738308-150738321 chr1:150738309-150738322
20	POLR2A	chr1:150737910-150738616	HL-60	blood:	n/a	n/a
21	CUX1	chr1:150737245-150738579	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:

Variant related genes	Relation type
CTSS	TF binding region
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10788795	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888396	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204689	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204700	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204714	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204715	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576175	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12031458	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12032445	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038403	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12728254	0.91[EUR][1000 genomes]
rs16840074	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1811698	0.91[ASN][1000 genomes]
rs1932864	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2134688	0.91[EUR][1000 genomes]
rs3738483	0.91[EUR][1000 genomes]
rs3754207	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3768017	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3820541	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3820543	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4379678	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4970970	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs533928	0.80[EUR][1000 genomes]
rs55890313	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61817598	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61817599	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61817600	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61817649	0.80[EUR][1000 genomes]
rs6587517	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6661100	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671703	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6679701	0.83[EUR][1000 genomes]
rs6684611	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688248	0.80[EUR][1000 genomes]
rs6696167	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72704624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517566	0.88[EUR][1000 genomes]
rs7520511	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7520516	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7529204	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535848	0.80[EUR][1000 genomes]
rs7535975	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150735600-150738600	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:150736200-150738600	Active TSS	Colonic Mucosa	Colon
3	chr1:150736400-150738600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:150737200-150738600	Flanking Active TSS	A549	lung
5	chr1:150737200-150761800	Weak transcription	Spleen	Spleen
6	chr1:150737400-150738600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr1:150737400-150738600	Active TSS	Adipose Nuclei	Adipose
8	chr1:150737400-150738800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr1:150737400-150740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:150737600-150738600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr1:150737600-150738600	Active TSS	Colon Smooth Muscle	Colon
12	chr1:150737600-150738600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:150737600-150738800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:150737800-150738600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:150737800-150738600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:150737800-150738800	Active TSS	Primary T cells from cord blood	blood
17	chr1:150737800-150738800	Active TSS	Primary hematopoietic stem cells	blood
18	chr1:150737800-150738800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:150738000-150738600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:150738000-150738600	Active TSS	Right Ventricle	heart
21	chr1:150738000-150738600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr1:150738000-150738800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr1:150738200-150738600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:150738200-150738600	Active TSS	HepG2	liver
25	chr1:150738200-150738600	Active TSS	Osteobl	bone
26	chr1:150738200-150738800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:150738200-150738800	Enhancers	HUVEC	blood vessel
28	chr1:150738400-150738600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:150738400-150738600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:150738400-150738600	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr1:150738400-150738600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:150738400-150738600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:150738400-150738600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:150738400-150738600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:150738400-150738600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:150738400-150738600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr1:150738400-150738600	Enhancers	Fetal Intestine Small	intestine
38	chr1:150738400-150738600	Enhancers	Fetal Muscle Leg	muscle
39	chr1:150738400-150738600	Enhancers	Fetal Stomach	stomach
40	chr1:150738400-150738600	Flanking Active TSS	Right Atrium	heart
41	chr1:150738400-150738600	Flanking Active TSS	Thymus	Thymus
42	chr1:150738400-150738600	Enhancers	K562	blood
43	chr1:150738400-150738600	Enhancers	NHDF-Ad	bronchial
44	chr1:150738400-150738800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr1:150738400-150738800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:150738400-150738800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:150738400-150738800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr1:150738400-150738800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr1:150738400-150738800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:150738400-150738800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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