Variant report

Variant	rs327802
Chromosome Location	chr5:98226159-98226160
allele	A/G
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	POLR2A	chr5:98225961-98226161	K562	blood:	n/a	n/a
2	KAP1	chr5:98226066-98226458	K562	blood:	n/a	n/a
3	POLR2A	chr5:98225610-98227239	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98194266..98195953-chr5:98224868..98226763,2	MCF-7	breast:
2	chr5:98226144..98228062-chr5:98229771..98233022,3	MCF-7	breast:
3	chr5:98225680..98228105-chr5:98234782..98236806,2	K562	blood:
4	chr5:98220131..98222093-chr5:98224130..98226701,2	K562	blood:

Variant related genes	Relation type
CHD1	TF binding region
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10044680	1.00[EUR][1000 genomes]
rs10045317	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10046011	1.00[EUR][1000 genomes]
rs10060286	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13358830	1.00[EUR][1000 genomes]
rs1382336	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs161743	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162139	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162141	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162142	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162143	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162157	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162162	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17166397	1.00[EUR][1000 genomes]
rs17166450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17166454	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs179175	1.00[EUR][1000 genomes]
rs1828171	0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28782775	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs325196	1.00[AMR][1000 genomes]
rs325198	1.00[EUR][1000 genomes]
rs325210	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs325216	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs327801	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs327805	1.00[EUR][1000 genomes]
rs451883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57969582	1.00[EUR][1000 genomes]
rs59156696	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61578983	1.00[EUR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73153514	1.00[EUR][1000 genomes]
rs73153532	1.00[EUR][1000 genomes]
rs73155421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727696	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98189400-98227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:98190200-98240600	Strong transcription	Liver	Liver
13	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:98190400-98234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:98190400-98238200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:98190400-98238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:98190400-98240000	Weak transcription	Stomach Mucosa	stomach
18	chr5:98190400-98240400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:98190400-98240600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:98190400-98240800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:98190400-98241200	Strong transcription	Fetal Thymus	thymus
22	chr5:98190400-98243800	Strong transcription	Dnd41	blood
23	chr5:98190600-98240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:98190600-98240800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:98190600-98240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:98190600-98241000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:98190800-98240000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:98191000-98240800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:98195200-98240800	Strong transcription	Primary B cells from cord blood	blood
30	chr5:98196000-98226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:98196200-98234000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:98198400-98240800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:98200200-98240400	Strong transcription	HSMM	muscle
35	chr5:98200600-98240800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:98203000-98238200	Strong transcription	HUVEC	blood vessel
37	chr5:98203800-98238800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:98204400-98226800	Weak transcription	Gastric	stomach
39	chr5:98204400-98231200	Weak transcription	Right Ventricle	heart
40	chr5:98204600-98231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:98207800-98240000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:98209400-98234000	Weak transcription	Fetal Brain Male	brain
43	chr5:98210000-98232200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:98210400-98228400	Strong transcription	Primary T cells from cord blood	blood
45	chr5:98210400-98238200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:98211200-98232200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:98211400-98241200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:98211800-98228600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:98212000-98232200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:98212000-98236800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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