Variant report

Variant	rs2181920
Chromosome Location	chr6:150390707-150390708
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	CTCF	chr6:150390706-150390712	A549	lung:	n/a	n/a
2	CTCF	chr6:150390580-150390730	WI-38	lung:	n/a	n/a
3	HCFC1	chr6:150389845-150390727	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr6:150390366-150390710	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:150390560-150390710	WI-38	lung:	n/a	n/a
6	MAX	chr6:150389974-150390739	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:150389936-150390733	HCT-116	colon:	n/a	n/a
8	MYC	chr6:150390056-150390719	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr6:150390698-150390791	GM13976	blood:	n/a	n/a
10	MAX	chr6:150390127-150390721	HepG2	liver:	n/a	n/a
11	RAD21	chr6:150390102-150390707	H1-hESC	embryonic stem cell:	n/a	chr6:150390486-150390498 chr6:150390485-150390499
12	E2F6	chr6:150389967-150390743	A549	lung:	n/a	n/a
13	CTCF	chr6:150390210-150390925	A549	lung:	n/a	n/a
14	CTCF	chr6:150389979-150390939	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr6:150390707-150390733	GM19240	blood:	n/a	n/a
16	MAX	chr6:150389859-150390782	A549	lung:	n/a	chr6:150389912-150389922
17	RAD21	chr6:150390026-150390738	ECC-1	luminal epithelium:	n/a	chr6:150390486-150390498 chr6:150390485-150390499
18	RAD21	chr6:150389938-150390867	HCT-116	colon:	n/a	chr6:150390486-150390498 chr6:150390485-150390499 chr6:150390737-150390747
19	MAX	chr6:150389935-150390733	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:150390202-150390769	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:150390600-150390750	HEEpiC	esophagus:	n/a	n/a
22	MAX	chr6:150389912-150390728	SK-N-SH	brain:	n/a	chr6:150389912-150389922
23	RAD21	chr6:150390149-150390763	MCF-7	breast:	n/a	chr6:150390486-150390498 chr6:150390485-150390499 chr6:150390737-150390747
24	CTCF	chr6:150390668-150390717	MCF-7	breast:	n/a	n/a
25	TCF7L2	chr6:150390047-150391098	HCT-116	colon:	n/a	n/a
26	RAD21	chr6:150390309-150390716	A549	lung:	n/a	chr6:150390486-150390498 chr6:150390485-150390499
27	MAX	chr6:150389958-150390772	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr6:150389907-150390743	A549	lung:	n/a	chr6:150389912-150389922
29	CTCF	chr6:150390289-150390796	IMR90	lung:	n/a	n/a
30	E2F6	chr6:150389961-150390731	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:150390394-150390716	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:150390187-150390822	K562	blood:	n/a	n/a
33	MYC	chr6:150389977-150390753	A549	lung:	n/a	n/a
34	MAX	chr6:150389786-150390749	ECC-1	luminal epithelium:	n/a	chr6:150389912-150389922
35	CTCF	chr6:150390702-150390720	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr6:150390671-150390751	MCF-7	breast:	n/a	n/a
37	MAZ	chr6:150389527-150390931	IMR90	lung:	n/a	chr6:150390922-150390931 chr6:150389912-150389922
38	POLR2A	chr6:150389915-150390722	HCT-116	colon:	n/a	n/a
39	MAX	chr6:150389905-150390773	ECC-1	luminal epithelium:	n/a	chr6:150389912-150389922
40	E2F6	chr6:150389983-150390796	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150250328..150250903-chr6:150390622..150391573,2	MCF-7	breast:

Variant related genes	Relation type
ULBP3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10440891	1.00[AMR][1000 genomes]
rs2038771	1.00[AMR][1000 genomes]
rs6942088	1.00[AMR][1000 genomes]
rs73779765	1.00[AMR][1000 genomes]
rs73779766	1.00[AMR][1000 genomes]
rs73779767	1.00[AMR][1000 genomes]
rs73779768	1.00[AMR][1000 genomes]
rs73779769	1.00[AMR][1000 genomes]
rs73779770	1.00[AMR][1000 genomes]
rs9322238	1.00[AMR][1000 genomes]
rs9322239	1.00[AMR][1000 genomes]
rs9478377	1.00[AMR][1000 genomes]
rs9478378	1.00[AMR][1000 genomes]
rs9478379	1.00[AMR][1000 genomes]
rs9479246	1.00[AMR][1000 genomes]
rs9479459	1.00[AMR][1000 genomes]
rs9479468	1.00[AMR][1000 genomes]
rs9479477	1.00[AMR][1000 genomes]
rs9885917	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3323918	chr6:150327978-150392099	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv886767	chr6:150335407-150400488	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1026236	chr6:150360882-150408946	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150389200-150390800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr6:150389200-150391000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:150389400-150390800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:150389400-150390800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:150389400-150390800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:150389400-150390800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:150389400-150390800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:150389400-150390800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:150389400-150390800	Active TSS	Brain Cingulate Gyrus	brain
10	chr6:150389400-150390800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:150389400-150390800	Active TSS	HSMMtube	muscle
12	chr6:150389400-150390800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr6:150389400-150390800	Active TSS	NHDF-Ad	bronchial
14	chr6:150389400-150391000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:150389400-150391000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:150389400-150391000	Active TSS	Brain Anterior Caudate	brain
17	chr6:150389400-150391000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:150389400-150391000	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:150389400-150391200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:150389400-150391200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:150389600-150390800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:150389600-150390800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:150389600-150390800	Active TSS	Primary T cells from cord blood	blood
24	chr6:150389600-150390800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:150389600-150390800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:150389600-150390800	Active TSS	Brain Hippocampus Middle	brain
27	chr6:150389600-150390800	Active TSS	Colon Smooth Muscle	Colon
28	chr6:150389600-150390800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:150389600-150390800	Active TSS	Fetal Lung	lung
30	chr6:150389600-150390800	Active TSS	Gastric	stomach
31	chr6:150389600-150390800	Active TSS	Left Ventricle	heart
32	chr6:150389600-150390800	Active TSS	A549	lung
33	chr6:150389600-150390800	Active TSS	Hela-S3	cervix
34	chr6:150389600-150391000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:150389600-150391000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:150389600-150391000	Active TSS	Brain Germinal Matrix	brain
37	chr6:150389600-150391000	Active TSS	Fetal Brain Female	brain
38	chr6:150389600-150391000	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:150389600-150391000	Active TSS	HSMM	muscle
40	chr6:150389600-150391200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:150389800-150390800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:150389800-150390800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:150389800-150390800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:150389800-150390800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:150389800-150390800	Active TSS	Brain Substantia Nigra	brain
46	chr6:150389800-150390800	Active TSS	Fetal Kidney	kidney
47	chr6:150389800-150390800	Active TSS	Pancreas	Pancrea
48	chr6:150389800-150390800	Active TSS	Right Atrium	heart
49	chr6:150389800-150390800	Active TSS	Osteobl	bone
50	chr6:150389800-150391200	Active TSS	NHLF	lung

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