Variant report

Variant	rs71616101
Chromosome Location	chr3:43772367-43772368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43763201..43765541-chr3:43771404..43774257,2	K562	blood:
2	chr3:43762550..43764701-chr3:43771141..43772904,2	K562	blood:
3	chr3:43604926..43607444-chr3:43771601..43774245,2	K562	blood:
4	chr3:43769854..43772838-chr3:43812106..43815098,2	K562	blood:
5	chr3:43732289..43734005-chr3:43770754..43772802,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13082460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35358711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35794830	1.00[AMR][1000 genomes]
rs35914971	1.00[AFR][1000 genomes]
rs71325003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876733	chr3:43768018-43854669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43734800-43774400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:43749800-43774400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:43751800-43773200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:43752800-43774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:43755400-43778200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:43755600-43774200	Weak transcription	Thymus	Thymus
7	chr3:43755600-43775600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:43755600-43776200	Weak transcription	Fetal Brain Female	brain
9	chr3:43755600-43778200	Weak transcription	Brain Germinal Matrix	brain
10	chr3:43755600-43778200	Weak transcription	Fetal Stomach	stomach
11	chr3:43755600-43784000	Weak transcription	Ovary	ovary
12	chr3:43756200-43778400	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:43758200-43773400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:43759600-43774200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:43759600-43774200	Weak transcription	Spleen	Spleen
16	chr3:43759600-43775400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:43759600-43778400	Weak transcription	Right Ventricle	heart
18	chr3:43759600-43778600	Weak transcription	Gastric	stomach
19	chr3:43760000-43777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:43760200-43775400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:43760200-43775600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:43760200-43777200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:43760200-43778800	Weak transcription	Aorta	Aorta
24	chr3:43760800-43774200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:43761000-43774200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:43761000-43774400	Weak transcription	NHEK	skin
27	chr3:43761000-43777600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:43761200-43775200	Weak transcription	HMEC	breast
29	chr3:43761200-43776800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:43761600-43784200	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:43761800-43775000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:43762000-43774400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:43762000-43774800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:43762000-43775000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:43762000-43775400	Weak transcription	Primary T cells from cord blood	blood
36	chr3:43762000-43776000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:43762200-43774200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:43762200-43778600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:43762400-43774400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:43762400-43774400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:43762400-43775600	Weak transcription	Brain Angular Gyrus	brain
42	chr3:43762400-43777400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:43763000-43775400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:43763200-43777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:43767600-43778400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:43768000-43773400	Weak transcription	Placenta	Placenta
47	chr3:43768200-43774400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:43768200-43774400	Weak transcription	Esophagus	oesophagus
49	chr3:43768400-43774200	Weak transcription	Right Atrium	heart
50	chr3:43768400-43774400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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