Variant report

Variant	rs72874386
Chromosome Location	chr4:91050002-91050003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:2058702..2060790-chr4:91048350..91050086,2	MCF-7	breast:
2	chr4:91048863..91050461-chr4:91183370..91185880,2	MCF-7	breast:
3	chr4:91049244..91050799-chr4:91210980..91212924,2	MCF-7	breast:
4	chr17:56754989..56757359-chr4:91049583..91051351,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167962	Chromatin interaction
ENSG00000183971	Chromatin interaction
ENSG00000206917	Chromatin interaction
ENSG00000200997	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58946277	0.84[AFR][1000 genomes]
rs72876138	0.84[AFR][1000 genomes]
rs72876145	0.84[AFR][1000 genomes]
rs72877739	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv879537	chr4:90883047-91165346	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830006	chr4:90971656-91186340	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv879538	chr4:90993172-91080308	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv879539	chr4:91015463-91065352	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3357727	chr4:91048154-91050702	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91047800-91051000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:91047800-91051200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:91048000-91050200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:91048000-91050200	Active TSS	Brain Angular Gyrus	brain
5	chr4:91048000-91050400	Active TSS	Brain Hippocampus Middle	brain
6	chr4:91048000-91050600	Active TSS	Brain Cingulate Gyrus	brain
7	chr4:91048000-91050600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:91048000-91050600	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:91048000-91050800	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:91048000-91050800	Active TSS	Fetal Intestine Large	intestine
11	chr4:91048200-91050200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:91048200-91050200	Active TSS	Brain Substantia Nigra	brain
13	chr4:91048200-91050200	Active TSS	Right Atrium	heart
14	chr4:91048200-91050400	Active TSS	Right Ventricle	heart
15	chr4:91048200-91050400	Active TSS	Hela-S3	cervix
16	chr4:91048200-91050800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:91048200-91050800	Active TSS	Fetal Intestine Small	intestine
18	chr4:91048400-91050600	Active TSS	Stomach Mucosa	stomach
19	chr4:91048400-91051000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:91048400-91051200	Active TSS	GM12878-XiMat	blood
21	chr4:91048600-91050200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:91048600-91050200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:91048600-91050400	Active TSS	Psoas Muscle	Psoas
24	chr4:91048600-91050400	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr4:91048800-91050200	Bivalent/Poised TSS	Thymus	Thymus
26	chr4:91048800-91050800	Active TSS	Colonic Mucosa	Colon
27	chr4:91048800-91051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:91049200-91050400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr4:91049400-91050200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:91049400-91050800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr4:91049400-91050800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr4:91049400-91050800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr4:91049600-91050200	Flanking Active TSS	Fetal Brain Male	brain
34	chr4:91049600-91050200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr4:91049600-91050400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:91049600-91050400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:91049600-91050400	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr4:91049600-91050600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:91049600-91050800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:91049800-91050200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr4:91049800-91050200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr4:91049800-91050200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr4:91049800-91050200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr4:91049800-91050200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
45	chr4:91049800-91050200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr4:91049800-91050200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr4:91049800-91050200	Flanking Active TSS	Fetal Brain Female	brain
48	chr4:91049800-91050200	Bivalent/Poised TSS	NH-A	brain
49	chr4:91049800-91050400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr4:91049800-91050400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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