Variant report

Variant	rs16843500
Chromosome Location	chr4:2865598-2865599
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	RCOR1	chr4:2865549-2865773	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2864305..2866761-chr4:2868243..2869773,2	K562	blood:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1034400	1.00[ASN][1000 genomes]
rs10488838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263331	1.00[ASN][1000 genomes]
rs1574473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843169	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843481	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843535	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843539	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843553	1.00[ASN][1000 genomes]
rs16843596	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857845	1.00[ASN][1000 genomes]
rs34120252	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241425	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34550139	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585460	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743278	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745961	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945392	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445752	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35508581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35893718	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913891	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038921	1.00[ASN][1000 genomes]
rs41528047	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4969	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975682	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57155428	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57174035	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557041	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57763208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58059873	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58132256	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58196520	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58731679	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58758786	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58928665	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59786983	1.00[ASN][1000 genomes]
rs59790260	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59798370	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60169711	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61117606	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61339714	0.87[EUR][1000 genomes];1.00[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2852000-2865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:2857000-2877000	Weak transcription	Dnd41	blood
3	chr4:2857200-2867600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:2857400-2870000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr4:2857400-2877600	Weak transcription	HMEC	breast
6	chr4:2857600-2867400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:2858400-2867200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:2859200-2869400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:2859400-2865800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:2859400-2867200	Enhancers	Small Intestine	intestine
11	chr4:2859600-2865600	Enhancers	Adipose Nuclei	Adipose
12	chr4:2859600-2866000	Enhancers	Duodenum Mucosa	Duodenum
13	chr4:2859800-2865600	Enhancers	Fetal Heart	heart
14	chr4:2859800-2866600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:2860000-2867400	Enhancers	Stomach Mucosa	stomach
16	chr4:2860600-2867200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:2860600-2869200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:2860800-2869400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:2860800-2871000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:2861000-2866600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:2861400-2867200	Enhancers	Ovary	ovary
22	chr4:2861400-2872600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:2861800-2865600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:2862000-2869800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:2862000-2869800	Enhancers	Fetal Intestine Small	intestine
26	chr4:2862400-2867200	Enhancers	Primary B cells from cord blood	blood
27	chr4:2862600-2865600	Enhancers	Placenta	Placenta
28	chr4:2862600-2869800	Enhancers	HepG2	liver
29	chr4:2862800-2866200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:2862800-2866200	Weak transcription	Fetal Brain Male	brain
31	chr4:2862800-2866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:2863000-2866800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr4:2863000-2869000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:2863000-2869000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:2863200-2865800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:2863400-2865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:2863400-2866000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:2864000-2865600	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:2864000-2866200	Enhancers	K562	blood
40	chr4:2864000-2869400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:2864200-2865800	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr4:2864200-2866600	Enhancers	Psoas Muscle	Psoas
43	chr4:2864200-2869000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:2864400-2865800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:2864400-2866000	Weak transcription	Fetal Thymus	thymus
46	chr4:2864400-2866200	Weak transcription	Primary T cells from cord blood	blood
47	chr4:2864400-2866200	Enhancers	Right Ventricle	heart
48	chr4:2864600-2865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:2864600-2866000	Weak transcription	Colonic Mucosa	Colon
50	chr4:2864600-2866200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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