Variant report

Variant	rs115787469
Chromosome Location	chr12:120303800-120303801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120302350..120306271-chr12:120306775..120309464,5	K562	blood:
2	chr12:120302541..120304201-chr12:120307024..120309528,2	MCF-7	breast:
3	chr12:120302511..120304719-chr12:120314276..120316054,2	MCF-7	breast:
4	chr12:120302681..120304881-chr12:120306791..120311781,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122966	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
4	chr12:120259200-120311800	Strong transcription	Dnd41	blood
5	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:120272200-120306800	Weak transcription	HSMM	muscle
7	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
12	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
16	chr12:120279600-120303800	Weak transcription	Fetal Intestine Large	intestine
17	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
19	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
23	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:120289400-120305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:120289400-120305600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:120289400-120307600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:120289800-120304600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:120290400-120303800	Weak transcription	HMEC	breast
31	chr12:120293400-120313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:120293600-120313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:120294800-120304000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:120294800-120314200	Weak transcription	Primary T cells from cord blood	blood
35	chr12:120295200-120314200	Weak transcription	Fetal Kidney	kidney
36	chr12:120295600-120303800	Weak transcription	HUVEC	blood vessel
37	chr12:120295600-120305200	Weak transcription	HepG2	liver
38	chr12:120296000-120304200	Weak transcription	NHLF	lung
39	chr12:120296000-120310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:120296200-120303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:120296200-120303800	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:120297400-120312200	Strong transcription	Fetal Stomach	stomach
43	chr12:120299200-120313400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:120299400-120312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:120299400-120313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:120299800-120303800	Weak transcription	K562	blood
47	chr12:120300800-120311400	Strong transcription	Thymus	Thymus
48	chr12:120300800-120312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:120301000-120308200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:120301600-120307400	Strong transcription	A549	lung

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