Variant report

Variant	rs72865977
Chromosome Location	chr1:10349025-10349026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10270116..10272662-chr1:10346858..10349058,2	MCF-7	breast:
2	chr1:10341821..10344817-chr1:10347730..10349372,2	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58086360	1.00[AFR][1000 genomes]
rs72865935	1.00[AFR][1000 genomes]
rs72865956	1.00[AFR][1000 genomes]
rs72865984	1.00[AFR][1000 genomes]
rs72865992	1.00[AFR][1000 genomes]
rs72865994	1.00[AFR][1000 genomes]
rs72867406	1.00[AFR][1000 genomes]
rs72867407	1.00[AFR][1000 genomes]
rs72867417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72867419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72867464	1.00[AFR][1000 genomes]
rs72867480	1.00[AFR][1000 genomes]
rs72869115	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10314200-10356400	Weak transcription	Small Intestine	intestine
3	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
4	chr1:10315000-10355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:10317400-10355200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:10317400-10356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:10317600-10355600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:10320600-10363000	Weak transcription	Gastric	stomach
12	chr1:10321400-10359000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:10321800-10353200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:10322400-10356400	Weak transcription	Esophagus	oesophagus
15	chr1:10322800-10363200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:10324200-10356200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:10324400-10356400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:10326000-10352000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:10327200-10352400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:10331800-10356400	Weak transcription	Fetal Thymus	thymus
22	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
23	chr1:10333200-10359200	Weak transcription	Stomach Mucosa	stomach
24	chr1:10334400-10360000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:10335000-10360000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:10335200-10352000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10335600-10349400	Strong transcription	Brain Germinal Matrix	brain
28	chr1:10335600-10359000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:10335800-10359000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:10337000-10349400	Strong transcription	Fetal Intestine Large	intestine
31	chr1:10339400-10350600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:10339400-10352400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:10339400-10355600	Weak transcription	Primary B cells from cord blood	blood
34	chr1:10340000-10354600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:10340000-10356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:10340600-10350200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:10342400-10352200	Strong transcription	Fetal Stomach	stomach
38	chr1:10342800-10356200	Weak transcription	Dnd41	blood
39	chr1:10343000-10349600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:10343000-10351000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:10343000-10351000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:10343800-10355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:10343800-10355600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:10343800-10356400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:10343800-10358800	Strong transcription	NHDF-Ad	bronchial
46	chr1:10344000-10350400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:10344000-10351600	Weak transcription	HMEC	breast
48	chr1:10344000-10352000	Weak transcription	A549	lung
49	chr1:10344000-10352400	Weak transcription	Fetal Kidney	kidney
50	chr1:10344000-10355600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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