Variant report

Variant	rs72478229
Chromosome Location	chr10:709805-709806
allele	C/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	POLR2A	chr10:709289-709946	H1-neurons	neurons:	n/a	n/a
2	REST	chr10:709076-709908	H1-neurons	neurons:	n/a	n/a
3	REST	chr10:709142-709855	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr10:709429-709867	H1-neurons	neurons:	n/a	n/a
5	ZNF263	chr10:709538-710034	HEK293-T-REx	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-1	chr10:708731-711109	NR_027152

Variant related genes	Relation type
ENSG00000272992	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1973083	1.00[ASN][1000 genomes]
rs45473196	1.00[ASN][1000 genomes]
rs56880568	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57767918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58082750	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59237055	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60999446	1.00[ASN][1000 genomes]
rs61567237	1.00[ASN][1000 genomes]
rs61614588	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61833009	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7068163	1.00[ASN][1000 genomes]
rs7072403	1.00[ASN][1000 genomes]
rs7083682	1.00[ASN][1000 genomes]
rs7093991	1.00[ASN][1000 genomes]
rs7096351	1.00[ASN][1000 genomes]
rs72478225	1.00[ASN][1000 genomes]
rs72478227	1.00[ASN][1000 genomes]
rs7898821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7908574	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7921637	1.00[ASN][1000 genomes]
rs816564	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036501	chr10:224406-775824	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1052660	chr10:224406-785929	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1043752	chr10:224406-789665	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv916363	chr10:224406-816628	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv1035580	chr10:248463-832240	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv540392	chr10:248463-832240	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv549751	chr10:313304-734229	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv1050252	chr10:375035-839594	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv540397	chr10:375035-839594	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv1036348	chr10:387880-817037	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1035712	chr10:436747-714987	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1048859	chr10:442805-887622	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1039958	chr10:450753-889167	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
16	nsv540400	chr10:450753-889167	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA	19 gene(s)	inside rSNPs	diseases
17	nsv549753	chr10:458477-894838	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
18	nsv868946	chr10:503401-816628	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
19	nsv1039849	chr10:535309-829217	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
20	nsv915560	chr10:536704-816628	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
21	nsv916839	chr10:536707-817076	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
22	nsv894707	chr10:552355-752193	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1044857	chr10:577396-856059	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
24	nsv540402	chr10:577396-856059	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
25	nsv528733	chr10:577444-838378	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1036675	chr10:600206-839594	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
27	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
28	esv1801137	chr10:626412-735901	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA	8 gene(s)	inside rSNPs	diseases
29	nsv894714	chr10:626782-734229	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
30	nsv1042115	chr10:641343-825145	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
31	nsv540405	chr10:641343-825145	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
32	nsv825205	chr10:677475-804402	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
33	nsv825206	chr10:688018-818192	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
34	esv1850995	chr10:696237-735901	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
35	nsv948602	chr10:708293-944641	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
36	nsv949063	chr10:708293-974870	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:702200-710200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:704000-710200	Enhancers	Ovary	ovary
4	chr10:704400-711000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr10:705600-710400	Enhancers	Fetal Muscle Leg	muscle
6	chr10:705800-710800	Enhancers	Fetal Brain Male	brain
7	chr10:706000-710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:706000-710400	Enhancers	Left Ventricle	heart
9	chr10:706400-710000	Enhancers	Right Ventricle	heart
10	chr10:706400-710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:706400-710600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:706800-710000	Enhancers	Pancreas	Pancrea
13	chr10:706800-710400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:706800-710600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:707000-710200	Enhancers	Right Atrium	heart
16	chr10:707000-710400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:707200-710200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:707200-710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:707200-710400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:707200-711600	Weak transcription	Fetal Kidney	kidney
21	chr10:707400-711400	Enhancers	Rectal Smooth Muscle	rectum
22	chr10:707600-710200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:707600-711400	Weak transcription	Aorta	Aorta
24	chr10:707600-711600	Weak transcription	Stomach Mucosa	stomach
25	chr10:707600-711800	Weak transcription	Lung	lung
26	chr10:708000-713200	Weak transcription	Esophagus	oesophagus
27	chr10:708000-713200	Weak transcription	Psoas Muscle	Psoas
28	chr10:708200-710000	Enhancers	Fetal Lung	lung
29	chr10:708200-710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:708400-710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:708400-711600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:708400-713000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:708400-716000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:708400-716000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:708400-716000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:708600-710000	Genic enhancers	Fetal Intestine Small	intestine
37	chr10:708600-710200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:708800-710000	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr10:708800-710400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr10:709000-710000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr10:709000-710200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:709000-710400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:709000-710400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:709000-710400	Genic enhancers	Fetal Stomach	stomach
45	chr10:709000-710400	Enhancers	HepG2	liver
46	chr10:709000-713200	Weak transcription	Gastric	stomach
47	chr10:709200-710400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:709200-711200	Weak transcription	Fetal Intestine Large	intestine
49	chr10:709200-711800	Weak transcription	Fetal Thymus	thymus
50	chr10:709200-713400	Weak transcription	Fetal Heart	heart

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