Variant report

Variant	rs6681632
Chromosome Location	chr1:59364239-59364240
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	TBL1XR1	chr1:59364178-59364339	K562	blood:	n/a	n/a
2	JUN	chr1:59364236-59365333	K562	blood:	n/a	chr1:59364470-59364484
3	NR2F2	chr1:59364039-59365679	K562	blood:	n/a	n/a
4	EP300	chr1:59364137-59365644	SK-N-SH	brain:	n/a	chr1:59364686-59364695

No.	Distal block	Cell Line	Cell type
1	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
3	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
4	chr1:59316456..59319340-chr1:59363706..59366262,2	K562	blood:

Variant related genes	Relation type
ENSG00000232453	TF binding region
ENSG00000231740	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10493253	0.90[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207323	0.89[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11207325	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11207326	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207332	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117564	0.89[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12409909	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17118379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057596	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2953373	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41287666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587841	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6658104	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6661505	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6664131	0.86[EUR][1000 genomes]
rs6697107	0.90[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74078024	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
2	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
3	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:59358600-59367000	Enhancers	Adipose Nuclei	Adipose
5	chr1:59358800-59365800	Enhancers	Lung	lung
6	chr1:59358800-59367000	Enhancers	Fetal Muscle Leg	muscle
7	chr1:59359000-59365800	Enhancers	Left Ventricle	heart
8	chr1:59359000-59366400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:59359000-59367000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:59359000-59367200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:59359000-59368600	Enhancers	Fetal Intestine Small	intestine
12	chr1:59359000-59368800	Enhancers	Fetal Intestine Large	intestine
13	chr1:59359200-59366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:59359600-59365600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:59359600-59365600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:59360000-59367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:59360600-59364400	Enhancers	HepG2	liver
18	chr1:59360600-59365400	Enhancers	Spleen	Spleen
19	chr1:59360600-59366600	Enhancers	Colonic Mucosa	Colon
20	chr1:59360800-59364800	Enhancers	Right Atrium	heart
21	chr1:59360800-59365000	Enhancers	Fetal Heart	heart
22	chr1:59360800-59365000	Enhancers	Placenta	Placenta
23	chr1:59361000-59366600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:59361200-59364400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:59361200-59367000	Enhancers	Ovary	ovary
26	chr1:59361200-59368800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:59361600-59367000	Enhancers	Fetal Lung	lung
28	chr1:59361600-59368400	Weak transcription	GM12878-XiMat	blood
29	chr1:59361800-59364800	Weak transcription	Gastric	stomach
30	chr1:59361800-59368800	Weak transcription	HMEC	breast
31	chr1:59362000-59364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:59362000-59366000	Weak transcription	Osteobl	bone
33	chr1:59362200-59366600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:59362400-59364400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:59362400-59364600	Weak transcription	Liver	Liver
36	chr1:59362400-59368600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:59362400-59368600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:59362400-59368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:59362400-59369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:59362600-59364600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:59362600-59364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:59362600-59368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:59362600-59368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:59362600-59368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:59362800-59364400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:59362800-59364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:59362800-59364400	Weak transcription	Small Intestine	intestine
48	chr1:59362800-59364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:59362800-59364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:59362800-59364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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