Variant report

Variant	rs552431404
Chromosome Location	chr3:52270305-52270306
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52269274..52272214-chr3:52398381..52400803,2	K562	blood:
2	chr3:52259472..52263342-chr3:52269626..52274061,4	MCF-7	breast:
3	chr3:52262902..52264608-chr3:52269630..52271396,2	K562	blood:
4	chr3:52265696..52268496-chr3:52269267..52272971,4	MCF-7	breast:
5	chr3:52268721..52271141-chr3:52272963..52274697,2	K562	blood:
6	chr3:52268278..52270898-chr3:52320244..52322252,2	K562	blood:
7	chr3:52264729..52268939-chr3:52269297..52274565,7	K562	blood:
8	chr3:52269470..52276026-chr3:52310334..52314212,10	MCF-7	breast:
9	chr3:52269288..52271694-chr3:52319110..52321005,2	MCF-7	breast:
10	chr3:52269533..52276077-chr3:52310385..52313504,11	MCF-7	breast:
11	chr3:52257505..52260127-chr3:52268132..52270399,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247596	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000243224	Chromatin interaction
ENSG00000168237	Chromatin interaction
ENSG00000173366	Chromatin interaction
ENSG00000239732	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv876791	chr3:52269491-52286825	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52247800-52272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:52255200-52270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:52261200-52270800	Strong transcription	Fetal Stomach	stomach
4	chr3:52261600-52270600	Strong transcription	NHEK	skin
5	chr3:52261800-52270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:52264200-52271400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr3:52264800-52270600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:52265000-52270400	Weak transcription	K562	blood
9	chr3:52265000-52272000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:52265200-52270400	Weak transcription	HSMMtube	muscle
11	chr3:52265200-52270800	Weak transcription	HUVEC	blood vessel
12	chr3:52265400-52270800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:52265400-52271800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:52265600-52270400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:52265600-52270400	Weak transcription	Brain Substantia Nigra	brain
16	chr3:52265600-52270400	Strong transcription	Fetal Intestine Small	intestine
17	chr3:52265600-52270400	Weak transcription	Stomach Mucosa	stomach
18	chr3:52265600-52270400	Weak transcription	HMEC	breast
19	chr3:52265600-52270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:52265600-52270600	Weak transcription	Small Intestine	intestine
21	chr3:52265600-52270800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:52265600-52270800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:52265600-52271200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:52265800-52271600	Enhancers	Liver	Liver
25	chr3:52266000-52270600	Weak transcription	NH-A	brain
26	chr3:52266000-52271400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:52266000-52271600	Weak transcription	Fetal Lung	lung
28	chr3:52266200-52270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:52266200-52271600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:52266400-52271400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr3:52266600-52270400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:52266600-52270400	Weak transcription	HSMM	muscle
33	chr3:52266600-52272200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:52267000-52272200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:52267200-52271600	Genic enhancers	Fetal Muscle Leg	muscle
36	chr3:52268000-52272200	Enhancers	Fetal Brain Male	brain
37	chr3:52268200-52270600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:52268200-52271600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:52268400-52272200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:52268600-52270600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:52268800-52270800	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:52268800-52271800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:52269000-52270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:52269000-52270400	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:52269000-52270600	Genic enhancers	Dnd41	blood
46	chr3:52269000-52271000	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr3:52269000-52271400	Enhancers	Right Ventricle	heart
48	chr3:52269000-52272000	Weak transcription	Aorta	Aorta
49	chr3:52269200-52270400	Weak transcription	Colonic Mucosa	Colon
50	chr3:52269200-52270800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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