Variant report

Variant	rs3812998
Chromosome Location	chr16:30795700-30795701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
2	chr16:30795205..30796826-chr16:30884888..30887413,2	MCF-7	breast:
3	chr14:69261366..69263253-chr16:30794662..30797248,2	MCF-7	breast:
4	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
5	chr16:30767198..30769504-chr16:30795416..30797699,2	MCF-7	breast:
6	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260852	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000265991	Chromatin interaction

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

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

rs_ID	r²[population]
rs11647243	1.00[JPT][hapmap]
rs12597042	1.00[YRI][hapmap]
rs12931416	1.00[MEX][hapmap]
rs12931543	1.00[YRI][hapmap]
rs4321212	1.00[MEX][hapmap]
rs7195142	1.00[YRI][hapmap]

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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30787600-30797600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:30787800-30797200	Weak transcription	HMEC	breast
3	chr16:30787800-30797200	Weak transcription	HUVEC	blood vessel
4	chr16:30787800-30797400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr16:30787800-30797400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30788200-30796800	Weak transcription	Fetal Brain Male	brain
7	chr16:30788200-30797200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:30788400-30796200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:30788600-30796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:30789400-30796400	Strong transcription	Fetal Intestine Small	intestine
11	chr16:30789600-30796200	Strong transcription	Brain Germinal Matrix	brain
12	chr16:30789600-30796600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:30789800-30796800	Weak transcription	Psoas Muscle	Psoas
14	chr16:30790000-30796000	Strong transcription	Fetal Stomach	stomach
15	chr16:30790000-30796600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:30790200-30796400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:30790200-30797400	Weak transcription	Fetal Kidney	kidney
18	chr16:30790400-30796200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:30790400-30796800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:30790400-30796800	Weak transcription	Hela-S3	cervix
21	chr16:30790400-30797000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:30790400-30797000	Strong transcription	Fetal Brain Female	brain
23	chr16:30790600-30796600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:30790600-30796800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30790800-30796400	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:30790800-30796600	Weak transcription	K562	blood
27	chr16:30791000-30796400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:30791000-30796800	Strong transcription	Placenta	Placenta
29	chr16:30791000-30797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:30791200-30796200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:30791200-30796400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30791400-30796400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:30791800-30795800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr16:30791800-30795800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:30791800-30795800	Strong transcription	Brain Hippocampus Middle	brain
36	chr16:30791800-30796200	Strong transcription	Adipose Nuclei	Adipose
37	chr16:30791800-30796400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:30791800-30796600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:30791800-30797000	Strong transcription	Lung	lung
40	chr16:30792000-30795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:30792000-30795800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr16:30792200-30796400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:30792400-30796000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:30792400-30796600	Strong transcription	HepG2	liver
45	chr16:30792800-30796600	Strong transcription	Colon Smooth Muscle	Colon
46	chr16:30792800-30797200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:30793000-30795800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:30793000-30795800	Strong transcription	Gastric	stomach
49	chr16:30793000-30795800	Strong transcription	Left Ventricle	heart
50	chr16:30793000-30795800	Strong transcription	Right Ventricle	heart

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