Variant report

Variant	rs284276
Chromosome Location	chr1:10794739-10794740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10785675..10789087-chr1:10792936..10797329,5	K562	blood:
2	chr1:10753350..10756890-chr1:10792534..10795103,3	K562	blood:
3	chr1:10793053..10795572-chr1:10798812..10801250,2	K562	blood:
4	chr1:10785941..10789087-chr1:10792936..10795105,3	K562	blood:

Variant related genes	Relation type
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs284232	1.00[AMR][1000 genomes]
rs520262	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv828030	chr1:10677562-10795161	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv871191	chr1:10684098-10796866	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv464838	chr1:10684098-10842021	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv545400	chr1:10684098-10842021	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1006689	chr1:10688713-10822684	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv465061	chr1:10690948-10796866	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv545402	chr1:10690948-10796866	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv871070	chr1:10690948-10796866	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv870923	chr1:10694125-10801585	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv525693	chr1:10694125-10840905	Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1002618	chr1:10703941-10822684	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv1014705	chr1:10703941-10840824	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv871469	chr1:10710255-10801585	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv465172	chr1:10757199-10796866	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv545404	chr1:10757199-10796866	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv871905	chr1:10757199-10801585	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv465283	chr1:10767902-10815421	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv545405	chr1:10767902-10815421	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10784800-10795600	Weak transcription	HSMMtube	muscle
2	chr1:10787600-10795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:10788200-10795400	Weak transcription	Esophagus	oesophagus
4	chr1:10788400-10795000	Weak transcription	Right Atrium	heart
5	chr1:10788400-10795400	Weak transcription	Lung	lung
6	chr1:10788400-10795600	Weak transcription	Psoas Muscle	Psoas
7	chr1:10789400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:10790600-10795000	Weak transcription	Fetal Lung	lung
9	chr1:10791600-10795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:10792400-10797400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:10792600-10794800	Enhancers	Brain Germinal Matrix	brain
12	chr1:10792800-10794800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:10792800-10795000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:10792800-10796000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:10792800-10796600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10792800-10800600	Enhancers	Right Ventricle	heart
17	chr1:10792800-10801600	Enhancers	Fetal Heart	heart
18	chr1:10793000-10796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:10793000-10800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:10793200-10796000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:10793200-10796400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:10793400-10794800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:10793400-10795400	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:10793600-10795800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:10793600-10806400	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:10793800-10795000	Enhancers	Fetal Brain Female	brain
27	chr1:10793800-10795800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:10793800-10796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:10793800-10796000	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:10793800-10796200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr1:10793800-10800400	Enhancers	Stomach Mucosa	stomach
32	chr1:10794000-10794800	Enhancers	Brain Anterior Caudate	brain
33	chr1:10794000-10795000	Enhancers	Brain Hippocampus Middle	brain
34	chr1:10794000-10795400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:10794000-10795800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:10794000-10796200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:10794200-10795400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:10794200-10795400	Weak transcription	Gastric	stomach
39	chr1:10794200-10795600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:10794200-10796200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:10794200-10799200	Weak transcription	Small Intestine	intestine
42	chr1:10794200-10800800	Enhancers	Fetal Brain Male	brain
43	chr1:10794400-10794800	Weak transcription	Left Ventricle	heart
44	chr1:10794400-10795200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:10794400-10795600	Weak transcription	Colonic Mucosa	Colon
46	chr1:10794400-10796000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:10794400-10796200	Enhancers	Colon Smooth Muscle	Colon
48	chr1:10794400-10796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:10794400-10796800	Weak transcription	HMEC	breast
50	chr1:10794400-10798000	Weak transcription	NHEK	skin

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