Variant report

Variant	rs16842315
Chromosome Location	chr4:8466381-8466382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8445521..8448213-chr4:8465015..8467213,2	K562	blood:
2	chr4:8465181..8467442-chr4:8468380..8472856,4	K562	blood:
3	chr4:8465664..8467583-chr4:8490405..8491928,2	K562	blood:
4	chr4:8459762..8461870-chr4:8464896..8467522,3	K562	blood:
5	chr4:8466177..8468891-chr4:8548337..8550041,2	MCF-7	breast:
6	chr4:8459420..8461262-chr4:8464896..8467883,3	K562	blood:
7	chr4:8465135..8466970-chr4:8594494..8596356,2	K562	blood:

Variant related genes	Relation type
ENSG00000109625	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108299	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498220	1.00[CEU][hapmap]
rs12498652	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12498856	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12499366	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12500106	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12504328	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[ASN][1000 genomes]
rs12506272	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[ASN][1000 genomes]
rs12513296	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[ASN][1000 genomes]
rs55856487	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[ASN][1000 genomes]
rs73209465	1.00[ASN][1000 genomes]
rs73209470	1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[ASN][1000 genomes]
rs73209480	1.00[ASN][1000 genomes]
rs73209481	1.00[ASN][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[ASN][1000 genomes]
rs73211306	1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[ASN][1000 genomes]
rs73211338	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211357	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	1.00[ASN][1000 genomes]
rs73211378	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73211394	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73213426	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	1.00[ASN][1000 genomes]
rs73223257	1.00[ASN][1000 genomes]
rs73223259	1.00[ASN][1000 genomes]
rs73223263	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	0.82[EUR][1000 genomes];1.00[ASN][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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
2	chr4:8446600-8473400	Strong transcription	Dnd41	blood
3	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
4	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
5	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
11	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:8448200-8467400	Strong transcription	Adipose Nuclei	Adipose
15	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:8456000-8469800	Weak transcription	Stomach Mucosa	stomach
17	chr4:8456200-8467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:8456400-8467000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:8456800-8468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:8457200-8470600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr4:8457800-8470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:8458200-8472000	Weak transcription	Fetal Heart	heart
23	chr4:8458600-8467000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:8459400-8474000	Strong transcription	Fetal Intestine Small	intestine
25	chr4:8459600-8470000	Weak transcription	Fetal Brain Male	brain
26	chr4:8459800-8466800	Weak transcription	NHLF	lung
27	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:8460000-8466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:8460000-8470000	Weak transcription	K562	blood
30	chr4:8460200-8466800	Weak transcription	HUVEC	blood vessel
31	chr4:8460200-8467000	Weak transcription	HMEC	breast
32	chr4:8460200-8469000	Weak transcription	Small Intestine	intestine
33	chr4:8460200-8470800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:8461000-8466800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:8461600-8466800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:8461800-8466600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:8461800-8467400	Weak transcription	Psoas Muscle	Psoas
38	chr4:8461800-8467800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8462000-8467000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:8462400-8472800	Strong transcription	Liver	Liver
41	chr4:8463000-8470600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:8463000-8471600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr4:8463400-8466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:8463400-8466800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:8463400-8466800	Weak transcription	Fetal Lung	lung
46	chr4:8463400-8467000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:8463400-8473800	Weak transcription	Fetal Kidney	kidney
48	chr4:8463600-8466600	Weak transcription	Brain Substantia Nigra	brain
49	chr4:8463600-8466800	Weak transcription	A549	lung
50	chr4:8463600-8467200	Weak transcription	Placenta Amnion	Placenta Amnion

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