Variant report

Variant	rs7974901
Chromosome Location	chr12:122104271-122104272
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	chr12:122062316..122067670-chr12:122099995..122104493,7	K562	blood:
2	chr12:122103388..122106454-chr12:122121633..122126620,5	K562	blood:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57271563	1.00[AMR][1000 genomes]
rs57306224	1.00[AMR][1000 genomes]
rs60847941	1.00[AMR][1000 genomes]
rs7952974	1.00[AMR][1000 genomes]
rs7965126	1.00[AMR][1000 genomes]
rs7972435	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
2	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
5	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
6	chr12:122097600-122105000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:122097800-122109400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:122102400-122106400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:122102400-122109800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:122102600-122106400	Weak transcription	Fetal Intestine Small	intestine
11	chr12:122102600-122106400	Weak transcription	Fetal Stomach	stomach
12	chr12:122102600-122106800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:122102600-122106800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122102600-122109800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:122102600-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:122102800-122104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:122102800-122106600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:122102800-122106800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122102800-122108600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:122102800-122109400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:122102800-122110000	Weak transcription	Thymus	Thymus
22	chr12:122102800-122110000	Weak transcription	Spleen	Spleen
23	chr12:122103000-122104400	Enhancers	Primary B cells from cord blood	blood
24	chr12:122103000-122104400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:122103000-122104800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:122103000-122105000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:122103000-122105000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:122103000-122105200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:122103000-122105200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:122103000-122107000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:122103000-122109600	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:122103000-122109800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:122103000-122109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:122103000-122109800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:122103000-122110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:122103200-122104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122103200-122104800	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:122103200-122105000	Enhancers	Primary T cells from cord blood	blood
39	chr12:122103200-122105400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:122103200-122109400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:122103200-122109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:122103200-122109800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:122103200-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:122103200-122116000	Weak transcription	K562	blood
45	chr12:122103600-122104800	Genic enhancers	GM12878-XiMat	blood
46	chr12:122103600-122105400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:122103800-122104400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:122103800-122104600	Genic enhancers	Fetal Thymus	thymus
49	chr12:122103800-122104800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:122103800-122105000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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