Variant report

Variant	rs528531604
Chromosome Location	chr1:212459373-212459374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
2	chr1:212412059..212414771-chr1:212457141..212460408,3	K562	blood:
3	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
4	chr1:212458733..212459387-chr8:141521541..141522086,2	Hela-S3	cervix:
5	chr1:212458842..212459587-chr6:26216702..26217355,2	Hela-S3	cervix:
6	chr1:212459000..212459553-chr16:21611112..21611902,2	Hela-S3	cervix:
7	chr1:210546975..210548886-chr1:212457780..212460319,2	MCF-7	breast:
8	chr1:212459054..212459554-chr3:186500797..186501438,2	Hela-S3	cervix:
9	chr1:212459145..212461703-chr1:212522964..212525110,2	K562	blood:
10	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
11	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
12	chr1:212413271..212416807-chr1:212458908..212461742,4	K562	blood:
13	chr1:212222561..212225557-chr1:212458329..212459830,2	K562	blood:
14	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
15	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
16	chr1:212340300..212343079-chr1:212458755..212460683,2	K562	blood:
17	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000220749	Chromatin interaction
ENSG00000104472	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000252879	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000226251	Chromatin interaction
ENSG00000229983	Chromatin interaction
ENSG00000225338	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000264358	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1835118	chr1:212457414-212459623	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1837179	chr1:212457414-212459623	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1836019	chr1:212457414-212460077	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	esv3442043	chr1:212457854-212460702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	esv1802324	chr1:212458317-212459563	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv549141	chr1:212458317-212459563	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	esv1795459	chr1:212458317-212459623	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv1798776	chr1:212458317-212459623	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv1799656	chr1:212458317-212459623	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	esv1799768	chr1:212458317-212459623	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv1802931	chr1:212458317-212459623	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	esv1840476	chr1:212458317-212459623	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv549142	chr1:212458317-212459623	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	esv1795453	chr1:212458317-212459796	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	esv1834108	chr1:212458317-212459796	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
26	esv1792430	chr1:212458317-212460077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
27	esv1796966	chr1:212458317-212460077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
28	esv1801167	chr1:212458317-212460077	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
29	esv18594	chr1:212458325-212460102	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
30	nsv549143	chr1:212458383-212459563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	nsv549144	chr1:212458542-212459563	Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
32	esv1840875	chr1:212458542-212459623	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
33	esv1842442	chr1:212458542-212459623	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
34	nsv549145	chr1:212458542-212459623	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
35	nsv549146	chr1:212458622-212459563	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
36	nsv549147	chr1:212458622-212459623	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
3	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
8	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:212457400-212460600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:212457400-212460600	Active TSS	Fetal Stomach	stomach
14	chr1:212457400-212461000	Active TSS	Stomach Mucosa	stomach
15	chr1:212457400-212461400	Active TSS	Fetal Intestine Large	intestine
16	chr1:212457400-212461800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:212457400-212463400	Active TSS	Right Ventricle	heart
18	chr1:212457600-212459400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:212457600-212459800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:212457600-212460400	Active TSS	K562	blood
21	chr1:212457600-212460600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:212457600-212460600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:212457600-212460800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:212457600-212460800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:212457600-212460800	Active TSS	Brain Anterior Caudate	brain
26	chr1:212457600-212461400	Active TSS	Left Ventricle	heart
27	chr1:212457600-212461600	Active TSS	NHDF-Ad	bronchial
28	chr1:212457600-212461800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:212457600-212461800	Active TSS	Esophagus	oesophagus
30	chr1:212457600-212462400	Active TSS	Aorta	Aorta
31	chr1:212457600-212462800	Active TSS	Psoas Muscle	Psoas
32	chr1:212457800-212459800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:212457800-212460200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:212457800-212460600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr1:212457800-212460600	Active TSS	HMEC	breast
36	chr1:212457800-212460600	Active TSS	HSMMtube	muscle
37	chr1:212457800-212460800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:212457800-212460800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:212457800-212460800	Active TSS	Brain Angular Gyrus	brain
40	chr1:212457800-212460800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:212457800-212460800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:212457800-212460800	Active TSS	Small Intestine	intestine
43	chr1:212457800-212461000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:212457800-212461000	Active TSS	A549	lung
45	chr1:212457800-212461600	Active TSS	Lung	lung
46	chr1:212457800-212461600	Active TSS	GM12878-XiMat	blood
47	chr1:212457800-212461800	Active TSS	Gastric	stomach
48	chr1:212458000-212459800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:212458000-212459800	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:212458000-212460000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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