Variant report

Variant	rs563640952
Chromosome Location	chr12:12344264-12344265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12339319..12341570-chr12:12343366..12345378,2	K562	blood:
2	chr12:12333575..12335738-chr12:12341960..12344629,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
6	chr12:12315400-12371600	Weak transcription	Lung	lung
7	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:12334200-12350800	Weak transcription	Fetal Thymus	thymus
9	chr12:12334400-12348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:12334400-12349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:12334400-12349600	Weak transcription	Dnd41	blood
12	chr12:12334400-12351200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:12334400-12352000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:12334400-12354000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:12334600-12349200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:12334800-12346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:12334800-12352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:12335200-12352000	Weak transcription	HSMM	muscle
20	chr12:12335200-12365800	Weak transcription	NHEK	skin
21	chr12:12335800-12354000	Weak transcription	HSMMtube	muscle
22	chr12:12336000-12352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:12336000-12354200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:12336000-12355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:12336200-12347000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
27	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
29	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
30	chr12:12336400-12348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:12336400-12349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:12336400-12357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:12337000-12345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:12337600-12348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:12337800-12348400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:12338200-12349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:12338200-12355800	Weak transcription	Stomach Mucosa	stomach
38	chr12:12339000-12350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:12339200-12357600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:12339800-12350600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:12339800-12350600	Weak transcription	Fetal Stomach	stomach
42	chr12:12340000-12346600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:12340000-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:12340200-12349600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:12340400-12345400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:12340600-12349600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:12340600-12359400	Weak transcription	Ovary	ovary
48	chr12:12340800-12349600	Weak transcription	Liver	Liver
49	chr12:12341000-12346400	Weak transcription	HepG2	liver
50	chr12:12341800-12347000	Weak transcription	Fetal Lung	lung

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