Variant report

Variant	rs72470188
Chromosome Location	chr1:10804381-10804382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10797814..10799876-chr1:10804060..10805794,2	K562	blood:
2	chr1:10801419..10805496-chr1:10805680..10808575,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35236487	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	esv3443537	chr1:10804321-10804866	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3319697	chr1:10804349-10804808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3319698	chr1:10804349-10804808	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10793600-10806400	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:10796400-10804800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:10798800-10804800	Weak transcription	Esophagus	oesophagus
4	chr1:10798800-10806000	Weak transcription	HMEC	breast
5	chr1:10798800-10806600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:10798800-10832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:10799600-10806200	Weak transcription	Lung	lung
8	chr1:10800000-10811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:10800000-10816400	Weak transcription	Pancreas	Pancrea
10	chr1:10800800-10811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:10801400-10807800	Enhancers	Left Ventricle	heart
12	chr1:10802000-10804400	Enhancers	Colon Smooth Muscle	Colon
13	chr1:10802000-10806600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:10802200-10804400	Enhancers	Fetal Brain Male	brain
15	chr1:10802200-10804800	Weak transcription	Gastric	stomach
16	chr1:10802400-10805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:10802400-10809000	Enhancers	Fetal Heart	heart
18	chr1:10802600-10805000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:10802800-10804800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:10802800-10805000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10802800-10805200	Weak transcription	Right Atrium	heart
22	chr1:10803000-10804400	Enhancers	Fetal Intestine Large	intestine
23	chr1:10803000-10804400	Enhancers	Stomach Mucosa	stomach
24	chr1:10803400-10804400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10803400-10804600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:10803600-10804800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:10803600-10804800	Weak transcription	Psoas Muscle	Psoas
28	chr1:10803600-10805400	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:10803600-10807400	Enhancers	Fetal Muscle Leg	muscle
30	chr1:10803600-10808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:10803600-10815400	Weak transcription	Colonic Mucosa	Colon
32	chr1:10803800-10813400	Weak transcription	Small Intestine	intestine
33	chr1:10804000-10805600	Weak transcription	Fetal Brain Female	brain
34	chr1:10804000-10806000	Enhancers	NHEK	skin
35	chr1:10804000-10806200	Enhancers	Liver	Liver
36	chr1:10804000-10806800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:10804200-10804400	Enhancers	HSMMtube	muscle
38	chr1:10804200-10804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:10804200-10804800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:10804200-10808800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:10804200-10809200	Enhancers	Right Ventricle	heart
42	chr1:10804200-10815400	Weak transcription	Rectal Mucosa Donor 29	rectum

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