Variant report

Variant	rs12731992
Chromosome Location	chr1:161410654-161410655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161128203..161130042-chr1:161408720..161410734,2	K562	blood:
2	chr1:161172685..161175216-chr1:161409075..161411689,2	K562	blood:
3	chr1:161398543..161400305-chr1:161409223..161410860,2	K562	blood:
4	chr1:161400311..161402101-chr1:161410173..161412002,2	K562	blood:
5	chr1:161354632..161358747-chr1:161408665..161411829,3	K562	blood:
6	chr1:161395263..161401587-chr1:161405777..161411756,13	K562	blood:

Variant related genes	Relation type
ENSG00000143258	Chromatin interaction
ENSG00000224985	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active 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
15	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
19	nsv820819	chr1:161408548-161451156	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv21308	chr1:161409063-161442720	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3451840	chr1:161409428-161443526	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3344166	chr1:161409528-161443526	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3359978	chr1:161409528-161443526	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3424752	chr1:161409628-161443526	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv825165	chr1:161409633-161451156	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3435547	chr1:161409828-161443526	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv3383739	chr1:161409928-161443526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	nsv8491	chr1:161410479-161452256	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv1005357	chr1:161410523-161442449	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161409600-161410800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:161409600-161410800	Bivalent/Poised TSS	Psoas Muscle	Psoas
3	chr1:161409800-161410800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:161409800-161410800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:161409800-161410800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:161409800-161410800	Bivalent/Poised TSS	HepG2	liver
7	chr1:161410000-161410800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr1:161410000-161410800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:161410000-161410800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:161410000-161410800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:161410000-161410800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:161410000-161410800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:161410000-161410800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:161410000-161410800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:161410000-161410800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:161410000-161410800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:161410000-161410800	Active TSS	Adipose Nuclei	Adipose
18	chr1:161410000-161410800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr1:161410000-161410800	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr1:161410000-161410800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:161410000-161410800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:161410000-161410800	Active TSS	Hela-S3	cervix
23	chr1:161410200-161410800	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:161410200-161410800	Active TSS	Lung	lung
25	chr1:161410600-161410800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:161410600-161410800	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
27	chr1:161410600-161410800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
28	chr1:161410600-161410800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:161410600-161410800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:161410600-161410800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:161410600-161410800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:161410600-161410800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:161410600-161410800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:161410600-161410800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:161410600-161410800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
36	chr1:161410600-161410800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr1:161410600-161410800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr1:161410600-161412400	Weak transcription	A549	lung
39	chr1:161410600-161414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:161410600-161414600	Weak transcription	Gastric	stomach
41	chr1:161410600-161414600	Weak transcription	Pancreas	Pancrea
42	chr1:161410600-161414600	Weak transcription	Spleen	Spleen

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