Variant report

Variant	rs10926507
Chromosome Location	chr1:241694414-241694415
allele	A/G
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	SMC3	chr1:241694378-241695146	SK-N-SH	brain:	n/a	chr1:241694773-241694787
2	CTCF	chr1:241694086-241695371	SK-N-SH	brain:	n/a	chr1:241694772-241694788 chr1:241694771-241694789 chr1:241694773-241694794 chr1:241695045-241695054
3	SMC3	chr1:241694184-241695696	GM12878	blood:	n/a	chr1:241694773-241694787
4	RAD21	chr1:241694400-241695365	SK-N-SH	brain:	n/a	chr1:241694772-241694791
5	CTCF	chr1:241694269-241695639	A549	lung:	n/a	chr1:241694772-241694788 chr1:241694771-241694789 chr1:241694773-241694794 chr1:241695045-241695054
6	CUX1	chr1:241694409-241695373	K562	blood:	n/a	chr1:241694579-241694595
7	CTCF	chr1:241694400-241694550	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:241693526..241696085-chr1:241801417..241805051,3	MCF-7	breast:
2	chr1:241694248..241695217-chr1:241997845..241998483,2	K562	blood:
3	chr1:241686849..241688415-chr1:241693556..241695270,2	MCF-7	breast:
4	chr1:241694345..241694856-chr1:241790996..241791500,2	K562	blood:
5	chr1:241692902..241697485-chr1:242010276..242014432,6	K562	blood:
6	chr1:241694305..241695206-chr1:242161362..242162044,2	K562	blood:
7	chr1:241693547..241697485-chr1:242010276..242012986,4	K562	blood:

Variant related genes	Relation type
KMO	TF binding region
ENSG00000054277	Chromatin interaction
ENSG00000174371	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12071124	0.86[EUR][1000 genomes]
rs12120348	0.86[EUR][1000 genomes]
rs1335898	0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs1414493	0.95[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2225788	0.89[EUR][1000 genomes]
rs2992641	0.95[CEU][hapmap]
rs2992642	0.86[CEU][hapmap]
rs2992644	0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs3014572	0.95[CEU][hapmap]
rs3014574	0.81[CEU][hapmap]
rs4310432	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4660100	0.86[EUR][1000 genomes]
rs6678766	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs6679290	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7530270	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241691200-241694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:241692000-241694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:241693600-241694600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:241694000-241694600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:241694400-241694600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:241694400-241694600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:241694400-241694600	Enhancers	Adipose Nuclei	Adipose
8	chr1:241694400-241694600	Flanking Active TSS	Liver	Liver
9	chr1:241694400-241694600	Enhancers	Brain Hippocampus Middle	brain
10	chr1:241694400-241694600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:241694400-241694600	Enhancers	Colon Smooth Muscle	Colon
12	chr1:241694400-241694600	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:241694400-241694600	Enhancers	Fetal Intestine Small	intestine
14	chr1:241694400-241694600	Flanking Active TSS	Fetal Kidney	kidney
15	chr1:241694400-241694600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:241694400-241694600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:241694400-241694600	Enhancers	Dnd41	blood
18	chr1:241694400-241694600	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:241694400-241694600	Enhancers	Hela-S3	cervix
20	chr1:241694400-241694600	Flanking Active TSS	HepG2	liver
21	chr1:241694400-241694600	Enhancers	HUVEC	blood vessel
22	chr1:241694400-241694600	Enhancers	K562	blood
23	chr1:241694400-241694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:241694400-241694800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:241694400-241694800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:241694400-241694800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:241694400-241694800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr1:241694400-241694800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:241694400-241694800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:241694400-241694800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:241694400-241694800	Flanking Active TSS	A549	lung
32	chr1:241694400-241694800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:241694400-241695000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:241694400-241695600	Active TSS	Brain Anterior Caudate	brain
35	chr1:241694400-241695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:241694400-241696600	Active TSS	Pancreatic Islets	Pancreatic Islet

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