Variant report

Variant	rs4916478
Chromosome Location	chr3:195922570-195922571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195796379..195810322-chr3:195910077..195926320,43	MCF-7	breast:
3	chr3:195806834..195810300-chr3:195921968..195927592,7	MCF-7	breast:
4	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:
5	chr3:195866882..195869334-chr3:195921149..195922972,2	K562	blood:
6	chr3:195916523..195918238-chr3:195921063..195922870,2	MCF-7	breast:
7	chr3:195798458..195803942-chr3:195919017..195926093,8	MCF-7	breast:
8	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
9	chr3:195918010..195921527-chr3:195922088..195925554,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252174	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2015708	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3893275	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4916481	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4916483	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4916491	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62410535	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7374788	0.86[AMR][1000 genomes]
rs9325434	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9325435	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9812813	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9816881	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9824251	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9834661	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9847725	0.88[AMR][1000 genomes]
rs9859292	0.91[AMR][1000 genomes]
rs9859624	0.81[AMR][1000 genomes]
rs9869983	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9870228	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	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
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	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
11	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195914200-195923600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:195915800-195924400	Enhancers	Placenta	Placenta
3	chr3:195918200-195923600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:195919000-195923600	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:195919000-195923600	Enhancers	Stomach Mucosa	stomach
6	chr3:195919000-195923800	Enhancers	Fetal Intestine Large	intestine
7	chr3:195919400-195929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:195919600-195922800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:195919800-195923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:195919800-195923400	Weak transcription	Thymus	Thymus
11	chr3:195919800-195923400	Weak transcription	Dnd41	blood
12	chr3:195920000-195922600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:195920000-195923200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:195920000-195929400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:195920200-195922800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:195920200-195923200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:195920200-195930400	Weak transcription	Esophagus	oesophagus
18	chr3:195920200-195930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:195920400-195923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:195920400-195923400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:195920800-195923200	Weak transcription	Brain Substantia Nigra	brain
22	chr3:195921000-195922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:195921000-195923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:195921000-195928800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:195921200-195923000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:195921200-195925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:195921200-195929400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:195921400-195922800	Weak transcription	GM12878-XiMat	blood
29	chr3:195921400-195924000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:195921400-195929000	Weak transcription	Primary B cells from cord blood	blood
31	chr3:195921400-195929600	Weak transcription	Brain Anterior Caudate	brain
32	chr3:195921600-195923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:195921600-195923400	Weak transcription	Colonic Mucosa	Colon
34	chr3:195921600-195923400	Weak transcription	Spleen	Spleen
35	chr3:195921600-195925000	Enhancers	Hela-S3	cervix
36	chr3:195921600-195925400	Weak transcription	Adipose Nuclei	Adipose
37	chr3:195921600-195925600	Weak transcription	Ovary	ovary
38	chr3:195921600-195929200	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
40	chr3:195921800-195922600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:195921800-195922800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:195921800-195923000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:195921800-195923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:195921800-195929400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:195922000-195923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:195922000-195923200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:195922000-195923200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:195922000-195923400	Weak transcription	Fetal Heart	heart
49	chr3:195922000-195923400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:195922000-195923600	Enhancers	K562	blood

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