Variant report

Variant	rs11969010
Chromosome Location	chr6:74178044-74178045
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	chr6:74176803..74178965-chr6:74217784..74220386,2	K562	blood:
2	6:74000304-74012200..6:74160392-74184826	K562	blood:

Variant related genes	Relation type
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11965436	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806980	0.85[EUR][1000 genomes]
rs72951364	0.85[EUR][1000 genomes]
rs72960023	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960035	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960044	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960049	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960065	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961942	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription 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 target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74172400-74178200	Weak transcription	Fetal Kidney	kidney
6	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
7	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:74172800-74178600	Weak transcription	NHLF	lung
9	chr6:74172800-74181400	Strong transcription	Fetal Stomach	stomach
10	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:74172800-74183000	Weak transcription	A549	lung
12	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
14	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
15	chr6:74173200-74178600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:74173200-74182800	Weak transcription	Right Ventricle	heart
17	chr6:74173400-74181400	Strong transcription	Fetal Intestine Small	intestine
18	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
19	chr6:74173600-74180000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:74173800-74181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:74173800-74181800	Strong transcription	Fetal Muscle Leg	muscle
23	chr6:74173800-74182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:74174000-74187600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:74174200-74178400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:74174200-74182600	Weak transcription	Small Intestine	intestine
30	chr6:74174600-74179800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr6:74174800-74180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:74174800-74180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:74175000-74179400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:74175200-74179800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:74175600-74179000	Strong transcription	K562	blood
39	chr6:74175600-74179200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:74175600-74180800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:74175600-74181400	Strong transcription	Lung	lung
42	chr6:74175600-74181600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:74175600-74188400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:74175800-74178800	Strong transcription	HepG2	liver
48	chr6:74175800-74179000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:74175800-74179000	Strong transcription	Brain Hippocampus Middle	brain
50	chr6:74175800-74179000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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