Variant report

Variant	rs34725367
Chromosome Location	chr12:104991268-104991269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104989262..104996194-chr12:104996249..105001190,9	K562	blood:
2	chr12:104985616..104988878-chr12:104989745..104992186,3	K562	blood:
3	chr12:104990754..104993750-chr12:104994386..104996312,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12829137	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12829561	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1704889	0.83[ASN][1000 genomes]
rs1704896	0.94[ASN][1000 genomes]
rs2665739	0.83[ASN][1000 genomes]
rs2665740	0.83[ASN][1000 genomes]
rs313325	0.83[ASN][1000 genomes]
rs35791423	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71440862	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71468217	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71468218	0.82[EUR][1000 genomes];0.94[ASN][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104975600-104992000	Weak transcription	Gastric	stomach
2	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:104980200-104997600	Weak transcription	Esophagus	oesophagus
4	chr12:104982600-104994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:104982800-104995400	Weak transcription	Thymus	Thymus
6	chr12:104983200-104996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:104983200-104997800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:104985000-104996400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:104986400-104992000	Enhancers	K562	blood
10	chr12:104987000-104992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:104987200-104992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:104987600-104992600	Weak transcription	Spleen	Spleen
13	chr12:104987800-104997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:104988000-104997000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:104988000-104997200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:104988600-104994800	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:104988800-104993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104988800-104995600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:104988800-104995600	Enhancers	GM12878-XiMat	blood
20	chr12:104989000-104991600	Enhancers	A549	lung
21	chr12:104989200-104991400	Enhancers	Fetal Stomach	stomach
22	chr12:104989200-104991600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:104989200-104991600	Enhancers	HSMM	muscle
24	chr12:104989200-104991800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:104989200-104992800	Enhancers	Fetal Thymus	thymus
26	chr12:104989200-104997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:104989400-104991400	Enhancers	Colon Smooth Muscle	Colon
28	chr12:104989400-104991800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:104989400-104995400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:104989400-104995800	Enhancers	Placenta	Placenta
31	chr12:104989400-104997800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:104989400-105030600	Strong transcription	Dnd41	blood
33	chr12:104989600-104992000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:104989800-104991600	Enhancers	Fetal Brain Male	brain
35	chr12:104989800-104993000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:104990000-104992200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:104990000-104992800	Weak transcription	Small Intestine	intestine
38	chr12:104990000-104994200	Enhancers	Fetal Muscle Leg	muscle
39	chr12:104990000-104994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:104990000-104995200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:104990000-104995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:104990200-104991600	Enhancers	Fetal Kidney	kidney
43	chr12:104990200-104995800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:104990400-104991400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:104990400-104991600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:104990400-104991600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:104990400-104991600	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:104990400-104991800	Enhancers	Fetal Heart	heart
49	chr12:104990400-104991800	Enhancers	HSMMtube	muscle
50	chr12:104990400-104992000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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