Variant report

Variant	rs986011
Chromosome Location	chr3:196365189-196365190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:196364983-196365198	NB4	blood:	n/a	n/a
2	POLR2A	chr3:196364921-196368084	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:196364918-196367948	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120730292..120731210-chr3:196364746..196365661,2	NB4	blood:
2	chr3:196363568..196366046-chr3:196378273..196380581,2	MCF-7	breast:
3	chr3:196336450..196339251-chr3:196363480..196365260,2	K562	blood:
4	chr3:196350963..196353680-chr3:196361979..196365286,3	MCF-7	breast:
5	chr3:196358115..196361015-chr3:196363727..196365735,4	MCF-7	breast:

No data

Variant related genes	Relation type
NRROS	TF binding region
PIGX	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000232065	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1798630	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196360000-196366200	Weak transcription	Esophagus	oesophagus
2	chr3:196360200-196366000	Weak transcription	Right Atrium	heart
3	chr3:196360200-196366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:196360200-196366200	Weak transcription	Right Ventricle	heart
5	chr3:196360400-196365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:196360400-196365600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:196360400-196365800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:196360600-196365600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:196360600-196365800	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:196360800-196365600	Weak transcription	Brain Germinal Matrix	brain
11	chr3:196360800-196365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:196360800-196365800	Weak transcription	Brain Anterior Caudate	brain
13	chr3:196360800-196366000	Weak transcription	Small Intestine	intestine
14	chr3:196360800-196366200	Weak transcription	Pancreas	Pancrea
15	chr3:196361000-196365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:196361000-196365600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:196361000-196365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:196361000-196366000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:196361400-196365600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:196362000-196365600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:196362200-196365400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:196362200-196365400	Enhancers	Fetal Thymus	thymus
23	chr3:196362200-196365600	Weak transcription	Primary T cells from cord blood	blood
24	chr3:196362200-196365600	Weak transcription	K562	blood
25	chr3:196362800-196365600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:196362800-196365800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:196363000-196365600	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:196363000-196365600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:196363200-196365600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:196363400-196365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:196363800-196365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:196363800-196365600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:196363800-196365600	Weak transcription	Thymus	Thymus
34	chr3:196363800-196365800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:196363800-196366000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:196363800-196366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:196364000-196365400	Weak transcription	Spleen	Spleen
38	chr3:196364000-196366000	Weak transcription	Lung	lung
39	chr3:196364400-196365400	Enhancers	GM12878-XiMat	blood
40	chr3:196364400-196365600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:196364400-196366400	Flanking Active TSS	Dnd41	blood
42	chr3:196364600-196365400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:196364600-196366000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:196364800-196366400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr3:196365000-196365400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr3:196365000-196365600	Enhancers	Primary B cells from cord blood	blood
47	chr3:196365000-196366000	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:196365000-196366400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:196365000-196366400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:196365000-196370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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