Variant report

Variant	rs2638336
Chromosome Location	chr12:56879071-56879072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56864085..56868415-chr12:56875359..56880201,4	MCF-7	breast:
2	chr12:56869259..56874891-chr12:56874892..56879427,6	MCF-7	breast:
3	chr12:56871870..56873819-chr12:56877228..56879223,2	MCF-7	breast:
4	chr12:56868265..56870850-chr12:56877314..56879836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135423	Chromatin interaction

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

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

rs_ID	r²[population]
rs10876892	0.83[AMR][1000 genomes]
rs2657877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2933240	0.83[AMR][1000 genomes]
rs2939307	0.80[AMR][1000 genomes]
rs774212	1.00[AMR][1000 genomes]
rs812282	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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv1052713	chr12:56848036-56917602	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56863200-56881000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:56863200-56881200	Weak transcription	Ovary	ovary
3	chr12:56863400-56881000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:56863400-56881200	Weak transcription	Right Atrium	heart
5	chr12:56863400-56881400	Weak transcription	HSMMtube	muscle
6	chr12:56863600-56880800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:56863800-56880800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:56863800-56880800	Weak transcription	Gastric	stomach
9	chr12:56863800-56880800	Weak transcription	HMEC	breast
10	chr12:56863800-56881000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:56863800-56881200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:56863800-56881600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:56864000-56880600	Weak transcription	Thymus	Thymus
14	chr12:56864200-56881200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:56864400-56880800	Weak transcription	Lung	lung
16	chr12:56864800-56881000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:56865600-56880800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:56865600-56881400	Weak transcription	Aorta	Aorta
19	chr12:56866000-56880800	Weak transcription	Spleen	Spleen
20	chr12:56866000-56881000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:56866000-56881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:56866200-56881000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:56866400-56881000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:56866600-56881200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:56866800-56881200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:56867600-56880800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:56867600-56880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:56867600-56881800	Weak transcription	A549	lung
29	chr12:56867800-56881000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:56867800-56881000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:56867800-56881000	Weak transcription	HSMM	muscle
32	chr12:56868000-56879800	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:56868600-56879600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:56868800-56880800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:56868800-56881000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:56869000-56881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:56869400-56880800	Weak transcription	Brain Anterior Caudate	brain
38	chr12:56869400-56881000	Weak transcription	Fetal Heart	heart
39	chr12:56869400-56881000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:56871200-56880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:56871200-56880800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:56871800-56881000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:56872000-56880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:56872000-56881200	Weak transcription	Esophagus	oesophagus
45	chr12:56872600-56880800	Weak transcription	Brain Angular Gyrus	brain
46	chr12:56873200-56880600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:56873800-56880600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:56873800-56880800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:56873800-56881000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:56874000-56880800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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