Variant report

Variant	rs16845878
Chromosome Location	chr1:224463766-224463767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224462899..224464865-chr1:224467530..224470373,2	K562	blood:
2	chr1:224454058..224456134-chr1:224463430..224465711,2	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10799556	0.85[YRI][hapmap];0.92[AFR][1000 genomes]
rs11801211	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802182	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs11811935	1.00[AMR][1000 genomes]
rs12748669	0.85[AFR][1000 genomes]
rs16845729	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846190	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846212	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs16846293	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846339	0.81[YRI][hapmap]
rs16846494	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2068945	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57027684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57469223	1.00[AMR][1000 genomes]
rs57967341	1.00[AMR][1000 genomes]
rs58788859	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59236258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710928	1.00[AMR][1000 genomes]
rs60715845	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60831135	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704458	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224412400-224473600	Weak transcription	HepG2	liver
3	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
4	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
5	chr1:224425600-224470000	Weak transcription	NHDF-Ad	bronchial
6	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
8	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
10	chr1:224436800-224473600	Weak transcription	Gastric	stomach
11	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
14	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
15	chr1:224438000-224474600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:224440400-224474800	Weak transcription	Fetal Kidney	kidney
18	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:224446000-224470600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:224450400-224470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:224450600-224473600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:224450800-224472200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:224451000-224469800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:224452400-224469200	Weak transcription	Aorta	Aorta
27	chr1:224452800-224472400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:224454800-224475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:224454800-224480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:224455000-224466000	Weak transcription	Thymus	Thymus
31	chr1:224455000-224472200	Weak transcription	HSMMtube	muscle
32	chr1:224455000-224474800	Weak transcription	Ovary	ovary
33	chr1:224455000-224480200	Weak transcription	Psoas Muscle	Psoas
34	chr1:224456000-224474600	Weak transcription	Brain Anterior Caudate	brain
35	chr1:224456200-224464400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:224456200-224469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:224456400-224467000	Weak transcription	NHEK	skin
38	chr1:224456400-224470200	Weak transcription	HMEC	breast
39	chr1:224457200-224466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:224457200-224479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:224457600-224469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:224458000-224468000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:224458800-224466200	Weak transcription	NH-A	brain
44	chr1:224459400-224467400	Weak transcription	GM12878-XiMat	blood
45	chr1:224461000-224463800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:224461000-224463800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:224461000-224464000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:224461000-224469000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:224461200-224463800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:224461200-224464000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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