Variant report

Variant	rs12297696
Chromosome Location	chr12:105385008-105385009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105376961..105378683-chr12:105383835..105385377,2	K562	blood:
2	chr12:105379993..105381811-chr12:105382055..105386132,5	K562	blood:
3	chr12:105378619..105382506-chr12:105382781..105387261,4	MCF-7	breast:
4	chr12:105384826..105387201-chr12:105391835..105393587,2	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11112314	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105380800-105386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:105380800-105386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105380800-105386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105380800-105386400	Weak transcription	Esophagus	oesophagus
5	chr12:105381000-105386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
7	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
8	chr12:105381400-105385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:105381400-105385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:105381400-105386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:105381600-105385400	Weak transcription	NHDF-Ad	bronchial
12	chr12:105381600-105385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:105381600-105385800	Weak transcription	NHLF	lung
14	chr12:105381600-105386000	Weak transcription	Colonic Mucosa	Colon
15	chr12:105381600-105386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:105381600-105386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
19	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
21	chr12:105381800-105385200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:105381800-105385600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:105381800-105385800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:105381800-105385800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:105381800-105385800	Weak transcription	NH-A	brain
26	chr12:105381800-105386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:105381800-105386200	Weak transcription	Thymus	Thymus
28	chr12:105381800-105386800	Weak transcription	Fetal Brain Male	brain
29	chr12:105381800-105388200	Weak transcription	HSMMtube	muscle
30	chr12:105381800-105388400	Weak transcription	Aorta	Aorta
31	chr12:105381800-105388400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:105381800-105389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:105381800-105392400	Weak transcription	Right Atrium	heart
34	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:105381800-105398000	Strong transcription	A549	lung
38	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:105382000-105385600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:105382000-105390800	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:105382000-105392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:105382000-105394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:105382000-105397800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:105382200-105385200	Weak transcription	Ovary	ovary
48	chr12:105382200-105385400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:105382200-105385800	Strong transcription	K562	blood
50	chr12:105382200-105385800	Weak transcription	NHEK	skin

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