Variant report

Variant	rs530379810
Chromosome Location	chr12:31858060-31858061
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31856566..31858188-chr12:31864446..31866027,2	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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS 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 target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
3	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
5	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:31839800-31871800	Weak transcription	Gastric	stomach
10	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
16	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:31845600-31860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:31846400-31860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:31846400-31860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:31846400-31862400	Weak transcription	Aorta	Aorta
22	chr12:31846400-31871800	Weak transcription	Lung	lung
23	chr12:31846600-31860200	Weak transcription	Fetal Lung	lung
24	chr12:31847800-31860200	Weak transcription	Fetal Intestine Small	intestine
25	chr12:31847800-31860400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:31848200-31859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:31848800-31860200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
29	chr12:31849200-31860200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:31849600-31860800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:31850800-31867600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:31851000-31860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:31851600-31860800	Weak transcription	Liver	Liver
35	chr12:31851600-31863200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:31852800-31859200	Weak transcription	Fetal Stomach	stomach
37	chr12:31852800-31860200	Weak transcription	Brain Germinal Matrix	brain
38	chr12:31852800-31861800	Weak transcription	Left Ventricle	heart
39	chr12:31852800-31871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:31853000-31859400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:31853000-31859600	Weak transcription	Fetal Brain Female	brain
43	chr12:31853000-31860000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:31853000-31860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:31853000-31860200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:31853000-31860200	Weak transcription	Primary T cells from cord blood	blood
47	chr12:31853000-31860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:31853000-31860200	Weak transcription	Dnd41	blood
49	chr12:31853000-31867200	Weak transcription	Brain Anterior Caudate	brain
50	chr12:31853200-31860200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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