Variant report

Variant	rs186620598
Chromosome Location	chr12:4395860-4395861
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	chr12:4007431..4009689-chr12:4393873..4396492,2	K562	blood:
2	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:

Variant related genes	Relation type
ENSG00000256862	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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 target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv437722	chr12:4391332-4396746	ZNF genes & repeats Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1042204	chr12:4395088-4408802	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1054861	chr12:4395342-4406281	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1037515	chr12:4395342-4408673	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1035984	chr12:4395342-4408802	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1035841	chr12:4395736-4408802	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
6	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
13	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
19	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
20	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:4389800-4396600	Strong transcription	NHEK	skin
27	chr12:4390000-4396400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:4390000-4398400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:4390000-4399600	Genic enhancers	Fetal Intestine Small	intestine
30	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:4390200-4399600	Genic enhancers	Fetal Intestine Large	intestine
32	chr12:4390200-4400000	Genic enhancers	Right Ventricle	heart
33	chr12:4390400-4396800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:4390400-4397000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:4390400-4397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:4390400-4398200	Genic enhancers	Duodenum Mucosa	Duodenum
37	chr12:4390600-4396000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr12:4390800-4396000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:4390800-4396200	Strong transcription	Lung	lung
40	chr12:4390800-4398800	Genic enhancers	GM12878-XiMat	blood
41	chr12:4390800-4400200	Strong transcription	Fetal Lung	lung
42	chr12:4391000-4396000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:4391000-4396200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:4391000-4396600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:4391000-4396800	Weak transcription	HSMMtube	muscle
46	chr12:4391200-4400800	Strong transcription	Pancreas	Pancrea
47	chr12:4391400-4396200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:4391600-4396600	Strong transcription	HSMM	muscle
49	chr12:4392000-4396200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:4393000-4398000	Genic enhancers	Primary T cells from cord blood	blood

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