Variant report

Variant	rs2597954
Chromosome Location	chr12:11261335-11261336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1669440	1.00[AMR][1000 genomes]
rs1669442	1.00[AMR][1000 genomes]
rs1669443	1.00[AMR][1000 genomes]
rs1863854	1.00[AMR][1000 genomes]
rs2264191	0.81[AFR][1000 genomes]
rs2597986	1.00[AMR][1000 genomes]
rs2708382	1.00[AMR][1000 genomes]
rs3983357	1.00[AMR][1000 genomes]
rs3983358	1.00[AMR][1000 genomes]
rs6488339	1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312325	1.00[AMR][1000 genomes]
rs74060739	1.00[AMR][1000 genomes]
rs7979501	0.90[AFR][1000 genomes]
rs838964	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv3503763	chr12:11161162-11275828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3503774	chr12:11161325-11275786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1038709	chr12:11165117-11283834	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1804289	chr12:11166879-11294110	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv8917	chr12:11168232-11293747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv1827548	chr12:11168557-11277324	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv2760999	chr12:11170837-11276036	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835477	chr12:11174302-11298269	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv898782	chr12:11185236-11283763	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	esv3503785	chr12:11190186-11291382	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv3503796	chr12:11190186-11291382	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	esv3408962	chr12:11195947-11269922	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	esv5827	chr12:11204250-11275862	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	esv3389516	chr12:11207203-11290088	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv3335920	chr12:11207222-11278359	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv3503829	chr12:11207236-11278424	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking 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	4 gene(s)	inside rSNPs	diseases
25	esv3503841	chr12:11207236-11278424	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	esv6373	chr12:11209985-11282106	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	esv3350574	chr12:11212837-11284853	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking 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	4 gene(s)	inside rSNPs	diseases
28	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
29	esv8675	chr12:11218264-11290113	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv1834356	chr12:11220712-11261335	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv1046393	chr12:11220712-11274426	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv1038879	chr12:11220712-11280303	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
34	nsv1043344	chr12:11220827-11308162	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
35	esv3491948	chr12:11232746-11275708	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	esv3491949	chr12:11232746-11275708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
37	esv3443560	chr12:11232897-11275808	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
38	nsv557497	chr12:11234850-11279407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv557522	chr12:11242096-11279407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	esv3352031	chr12:11249254-11276850	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	esv3350046	chr12:11256985-11292181	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11205800-11269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:11234400-11261400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:11237200-11262200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:11239200-11283600	Weak transcription	Fetal Thymus	thymus
5	chr12:11239600-11261600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11239800-11261400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11244800-11261400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:11245200-11286000	Weak transcription	Ovary	ovary
9	chr12:11249600-11261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:11249800-11261600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:11251000-11276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:11251200-11269800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:11251800-11263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:11252000-11261400	Weak transcription	Left Ventricle	heart
15	chr12:11252200-11274800	Weak transcription	HSMM	muscle
16	chr12:11252400-11261400	Weak transcription	Psoas Muscle	Psoas
17	chr12:11252800-11261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:11253000-11265200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:11253000-11283200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:11254000-11261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:11254000-11262600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:11254000-11267000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:11254200-11261800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:11257200-11265000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:11257400-11273000	Weak transcription	Fetal Heart	heart
26	chr12:11257800-11261400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:11257800-11262600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:11258200-11261400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:11258200-11261400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:11258600-11272800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:11258600-11273000	Weak transcription	Osteobl	bone
32	chr12:11258800-11272400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11259400-11261400	Strong transcription	Primary T cells from cord blood	blood
34	chr12:11259400-11262000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:11259400-11262000	ZNF genes & repeats	GM12878-XiMat	blood
36	chr12:11259400-11262200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:11259400-11262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:11259600-11262200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:11259800-11262600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr12:11259800-11264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:11259800-11265000	Weak transcription	HepG2	liver
42	chr12:11260000-11262000	Weak transcription	Pancreas	Pancrea
43	chr12:11260000-11262200	Strong transcription	A549	lung
44	chr12:11260000-11263200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:11260000-11272800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:11260000-11297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:11260200-11264200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:11260200-11264400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:11260200-11271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:11260400-11261600	ZNF genes & repeats	Primary B cells from cord blood	blood

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