Variant report

Variant	rs16843511
Chromosome Location	chr4:2873337-2873338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:2873271-2873990	NB4	blood:	n/a	n/a
2	MAX	chr4:2873251-2873977	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2872526..2874787-chr4:2876433..2878036,2	K562	blood:
2	chr4:2873287..2875371-chr4:2875676..2877933,2	K562	blood:
3	chr4:2871630..2873574-chr4:2881576..2884568,2	K562	blood:
4	chr4:2871947..2873673-chr4:2935533..2937298,2	MCF-7	breast:

Variant related genes	Relation type
ADD1	TF binding region
ENSG00000109736	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10026416	1.00[EUR][1000 genomes]
rs10030687	0.88[EUR][1000 genomes]
rs10031688	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050109	1.00[EUR][1000 genomes]
rs2515930	1.00[CHD][hapmap]
rs28510410	0.88[EUR][1000 genomes]
rs28747380	0.88[EUR][1000 genomes]
rs3021148	1.00[CEU][hapmap]
rs34209081	0.88[EUR][1000 genomes]
rs35640772	0.88[EUR][1000 genomes]
rs58168444	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
3	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv524060	chr4:2850142-2881256	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2857000-2877000	Weak transcription	Dnd41	blood
2	chr4:2857400-2877600	Weak transcription	HMEC	breast
3	chr4:2864600-2877400	Weak transcription	NHEK	skin
4	chr4:2870000-2877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:2870000-2877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:2870200-2877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:2870400-2873400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:2870400-2873800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:2870400-2875000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:2870600-2873400	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:2870600-2873600	Weak transcription	Fetal Thymus	thymus
13	chr4:2870600-2874000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:2870600-2886000	Weak transcription	Fetal Brain Male	brain
15	chr4:2870800-2873400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:2870800-2877800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:2870800-2878800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:2871000-2875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:2871000-2877600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:2871000-2885800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:2871200-2874200	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:2871200-2874200	Weak transcription	Lung	lung
23	chr4:2871200-2874400	Weak transcription	Esophagus	oesophagus
24	chr4:2871200-2875400	Weak transcription	NHLF	lung
25	chr4:2871200-2877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:2871200-2877000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:2871200-2877400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:2871200-2877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:2871200-2877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:2871200-2877400	Weak transcription	Placenta	Placenta
31	chr4:2871200-2877400	Weak transcription	Thymus	Thymus
32	chr4:2871200-2881600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:2871200-2886000	Weak transcription	Aorta	Aorta
34	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:2871400-2873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:2871400-2873600	Weak transcription	NH-A	brain
38	chr4:2871400-2874200	Weak transcription	Spleen	Spleen
39	chr4:2871400-2874400	Weak transcription	Colonic Mucosa	Colon
40	chr4:2871400-2877400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:2871400-2877400	Weak transcription	Fetal Kidney	kidney
42	chr4:2871400-2879400	Weak transcription	Gastric	stomach
43	chr4:2871600-2874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:2871600-2874400	Enhancers	Brain Anterior Caudate	brain
45	chr4:2871600-2874800	Weak transcription	Pancreas	Pancrea
46	chr4:2871600-2874800	Weak transcription	Stomach Mucosa	stomach
47	chr4:2871600-2877200	Weak transcription	Brain Germinal Matrix	brain
48	chr4:2871600-2877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:2871600-2877600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:2871600-2880800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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