Variant report

Variant	rs4130659
Chromosome Location	chr3:196135783-196135784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196135092..196136812-chr3:196230259..196232002,2	MCF-7	breast:
2	chr3:196133998..196136496-chr3:196146393..196149316,3	K562	blood:
3	chr3:196103840..196105489-chr3:196133127..196135831,2	K562	blood:
4	chr3:196133565..196136496-chr3:196147816..196149454,2	K562	blood:
5	chr3:196103840..196105428-chr3:196134331..196136601,2	K562	blood:
6	chr3:196129090..196131271-chr3:196133908..196136067,2	MCF-7	breast:
7	chr3:196129528..196131514-chr3:196134157..196136154,2	K562	blood:

Variant related genes	Relation type
ENSG00000163961	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73213958	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73213959	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73213962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	esv32642	chr3:196118819-196153861	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:196083600-196143800	Weak transcription	Psoas Muscle	Psoas
3	chr3:196089600-196150000	Weak transcription	Small Intestine	intestine
4	chr3:196095600-196144400	Weak transcription	Fetal Heart	heart
5	chr3:196113200-196136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:196118600-196157400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:196118800-196136000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:196124600-196139600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:196124600-196147400	Weak transcription	Right Atrium	heart
10	chr3:196125200-196157400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:196126600-196136000	Weak transcription	Colonic Mucosa	Colon
12	chr3:196127000-196141200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:196127000-196141400	Weak transcription	HMEC	breast
14	chr3:196127000-196153800	Weak transcription	NHEK	skin
15	chr3:196127400-196141200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:196127400-196152600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:196127600-196136400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:196127600-196136600	Weak transcription	Aorta	Aorta
19	chr3:196127600-196136600	Weak transcription	Esophagus	oesophagus
20	chr3:196127600-196136800	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:196127600-196137800	Weak transcription	Gastric	stomach
22	chr3:196127600-196142800	Weak transcription	Spleen	Spleen
23	chr3:196127600-196145000	Weak transcription	Right Ventricle	heart
24	chr3:196127600-196147600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:196127600-196157400	Weak transcription	HUVEC	blood vessel
26	chr3:196127800-196137800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:196127800-196141200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:196127800-196141200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:196127800-196141600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:196128000-196149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:196129400-196136200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:196129400-196136600	Weak transcription	Fetal Brain Female	brain
33	chr3:196129800-196144800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:196132200-196145800	Weak transcription	Lung	lung
35	chr3:196132200-196153800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:196132400-196136200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:196132400-196150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:196132600-196150000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:196132600-196157400	Weak transcription	Liver	Liver
40	chr3:196132800-196135800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:196133200-196135800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:196133800-196136600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:196134000-196135800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:196134000-196136400	Weak transcription	Fetal Brain Male	brain
45	chr3:196134000-196136400	Weak transcription	Fetal Intestine Small	intestine
46	chr3:196134000-196136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:196134000-196139400	Weak transcription	Brain Angular Gyrus	brain
48	chr3:196134000-196139400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:196134000-196141200	Weak transcription	Pancreas	Pancrea
50	chr3:196134000-196143000	Weak transcription	Ovary	ovary

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