Variant report

Variant	rs71325268
Chromosome Location	chr22:28325635-28325636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28313170..28318455-chr22:28322115..28328804,10	MCF-7	breast:
2	chr22:28314240..28318483-chr22:28320569..28325658,5	MCF-7	breast:
3	chr22:28313671..28316553-chr22:28324370..28326529,2	K562	blood:
4	chr22:28319328..28321084-chr22:28324266..28326016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction
ENSG00000264073	Chromatin interaction
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13055244	1.00[AFR][1000 genomes]
rs13057948	1.00[AFR][1000 genomes]
rs35098100	1.00[AFR][1000 genomes]
rs35182834	1.00[AFR][1000 genomes]
rs35417721	0.82[EUR][1000 genomes]
rs35523745	0.85[EUR][1000 genomes]
rs35750499	1.00[AFR][1000 genomes]
rs35866626	1.00[AFR][1000 genomes]
rs36060887	1.00[AFR][1000 genomes]
rs41281591	1.00[AFR][1000 genomes]
rs71325264	1.00[AFR][1000 genomes]
rs71325269	1.00[AFR][1000 genomes]
rs71325272	1.00[AFR][1000 genomes]
rs910009	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316200-28326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
3	chr22:28316200-28337400	Weak transcription	Ovary	ovary
4	chr22:28316400-28326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:28316400-28326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:28316400-28326400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:28316400-28326400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:28316400-28326600	Weak transcription	Right Ventricle	heart
9	chr22:28316400-28327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
11	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
12	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
14	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
17	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
20	chr22:28316600-28328600	Weak transcription	Stomach Mucosa	stomach
21	chr22:28316600-28348400	Weak transcription	Brain Substantia Nigra	brain
22	chr22:28316800-28325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:28316800-28326600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:28316800-28329000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:28316800-28333800	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:28316800-28336600	Weak transcription	Fetal Intestine Large	intestine
27	chr22:28316800-28340400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:28317000-28325800	Weak transcription	NHEK	skin
29	chr22:28317000-28326000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:28317000-28327400	Weak transcription	Adipose Nuclei	Adipose
31	chr22:28317000-28338800	Weak transcription	Fetal Intestine Small	intestine
32	chr22:28317000-28340800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:28317000-28348200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:28317200-28336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28317400-28326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:28317400-28326400	Weak transcription	NHDF-Ad	bronchial
37	chr22:28317600-28329000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:28317600-28340800	Weak transcription	Thymus	Thymus
39	chr22:28317800-28342600	Weak transcription	Small Intestine	intestine
40	chr22:28317800-28345200	Weak transcription	HepG2	liver
41	chr22:28318600-28332400	Weak transcription	K562	blood
42	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:28319400-28334000	Weak transcription	Fetal Stomach	stomach
44	chr22:28319600-28340800	Weak transcription	Fetal Thymus	thymus
45	chr22:28319600-28358000	Weak transcription	Brain Germinal Matrix	brain
46	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:28320000-28326400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:28320800-28347800	Weak transcription	HUVEC	blood vessel
49	chr22:28321000-28325800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr22:28321000-28325800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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