Variant report

Variant	rs4765778
Chromosome Location	chr12:4446037-4446038
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4429270..4432113-chr12:4445178..4447494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078237	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10735033	1.00[EUR][1000 genomes]
rs10744641	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10849038	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs10849039	0.88[AFR][1000 genomes]
rs2358726	1.00[EUR][1000 genomes]
rs4360766	0.88[AFR][1000 genomes]
rs4414304	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv275025	chr12:4441705-4462505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
2	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
5	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:4431600-4446400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:4431600-4446400	Weak transcription	Right Ventricle	heart
10	chr12:4431600-4446400	Weak transcription	Spleen	Spleen
11	chr12:4431600-4446800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:4431600-4449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
17	chr12:4431800-4446400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:4431800-4447200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:4432000-4448600	Weak transcription	Fetal Brain Female	brain
20	chr12:4432000-4450200	Weak transcription	Stomach Mucosa	stomach
21	chr12:4432200-4448000	Weak transcription	Right Atrium	heart
22	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
23	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
24	chr12:4432800-4446200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:4433000-4446800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:4433000-4447000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:4433000-4447000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:4433200-4450600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:4433200-4463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:4433400-4447200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:4433800-4460400	Weak transcription	Gastric	stomach
32	chr12:4434000-4446400	Weak transcription	Lung	lung
33	chr12:4434000-4447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:4434000-4461600	Weak transcription	NHLF	lung
35	chr12:4434000-4465000	Weak transcription	Esophagus	oesophagus
36	chr12:4436600-4446400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:4437000-4446800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:4437800-4449600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:4438200-4449400	Strong transcription	A549	lung
40	chr12:4438600-4449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:4438600-4449400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:4438600-4449800	Strong transcription	Primary B cells from cord blood	blood
43	chr12:4438800-4450200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:4439000-4448800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:4439200-4456000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:4439600-4449600	Weak transcription	Thymus	Thymus
47	chr12:4439800-4450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:4440200-4446200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:4440200-4450000	Strong transcription	HMEC	breast
50	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine

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