Variant report

Variant	rs73738743
Chromosome Location	chr6:27280635-27280636
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	RAD21	chr6:27280334-27280955	MCF-7	breast:	n/a	chr6:27280634-27280653
2	CTCF	chr6:27280580-27280730	GM12801	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
3	CTCF	chr6:27280560-27280710	GM12869	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
4	SIN3AK20	chr6:27280361-27280845	PANC-1	pancreas:	n/a	n/a
5	YY1	chr6:27280410-27280721	GM12892	blood:	n/a	n/a
6	CTCF	chr6:27280580-27280730	HCFaa	heart:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
7	CTCF	chr6:27280580-27280730	GM12874	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
8	CTCF	chr6:27280600-27280750	HEEpiC	esophagus:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
9	JUND	chr6:27280596-27280759	HepG2	liver:	n/a	chr6:27280734-27280741
10	CTCF	chr6:27280620-27280770	GM06990	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
11	MYC	chr6:27280621-27280639	MCF-7	breast:	n/a	n/a
12	FOXP2	chr6:27280471-27280789	SK-N-MC	brain:	n/a	n/a
13	MTA3	chr6:27280186-27280822	GM12878	blood:	n/a	n/a
14	SMC3	chr6:27280398-27280911	HepG2	liver:	n/a	chr6:27280635-27280649
15	CTCF	chr6:27280580-27280730	NHDF-neo	bronchial:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
16	RAD21	chr6:27280119-27280965	ECC-1	luminal epithelium:	n/a	chr6:27280634-27280653
17	CTCF	chr6:27280560-27280710	AG04449	skin:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
18	CTCF	chr6:27280478-27280764	ECC-1	luminal epithelium:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
19	CTCF	chr6:27280504-27280780	MCF-7	breast:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
20	ARID3A	chr6:27280472-27280791	HepG2	liver:	n/a	n/a
21	MAX	chr6:27280595-27280787	HepG2	liver:	n/a	n/a
22	ZEB1	chr6:27280368-27280782	GM12878	blood:	n/a	n/a
23	CTCF	chr6:27280418-27280832	GM12892	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
24	MAX	chr6:27279479-27280881	A549	lung:	n/a	n/a
25	SMC3	chr6:27279813-27280962	SK-N-SH	brain:	n/a	chr6:27280635-27280649
26	CTCF	chr6:27280580-27280730	SAEC	small airway:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
27	CTCF	chr6:27280580-27280730	HAc	cerebellar:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
28	CTCF	chr6:27280580-27280730	GM12865	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
29	CTCF	chr6:27280425-27280812	T-47D	breast:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
30	CTCF	chr6:27280560-27280710	HEK293	kidney:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
31	RAD21	chr6:27280424-27280855	HepG2	liver:	n/a	chr6:27280634-27280653
32	YY1	chr6:27280349-27280886	HepG2	liver:	n/a	n/a
33	CTCF	chr6:27280479-27280825	A549	lung:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
34	CTCF	chr6:27280560-27280710	HepG2	liver:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
35	PBX3	chr6:27280472-27280770	A549	lung:	n/a	n/a
36	CTCF	chr6:27280540-27280690	GM12874	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
37	CTCF	chr6:27280540-27280690	HBMEC	blood vessel:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
38	CTCF	chr6:27280332-27280889	H1-hESC	embryonic stem cell:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
39	RCOR1	chr6:27280395-27280807	HepG2	liver:	n/a	n/a
40	ELF1	chr6:27280283-27280977	MCF-7	breast:	n/a	chr6:27280597-27280608
41	CTCF	chr6:27280540-27280768	Kidney_OC	kidney:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
42	CTCF	chr6:27280580-27280730	GM12864	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
43	MAFK	chr6:27280522-27280771	HepG2	liver:	n/a	n/a
44	RAD21	chr6:27280048-27280854	IMR90	lung:	n/a	chr6:27280634-27280653
45	RAD21	chr6:27280408-27280941	ECC-1	luminal epithelium:	n/a	chr6:27280634-27280653
46	CTCF	chr6:27280540-27280690	GM12864	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
47	CTCF	chr6:27280580-27280730	GM12870	blood:	n/a	chr6:27280633-27280651 chr6:27280635-27280656
48	RFX5	chr6:27280498-27280764	GM12878	blood:	n/a	n/a
49	FOS	chr6:27280608-27280718	MCF10A-Er-Src	breast:	n/a	n/a
50	USF1	chr6:27280507-27280732	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27280603-27280653	AG04449	skin:	fetal
2	chr6:27280603-27280653	AG04450	lung:	fetal
3	chr6:27280603-27280653	SAEC	small airway:	n/a
4	chr6:27280603-27280653	PANC-1	pancreas:	n/a
5	chr6:27280603-27280653	HEK293	kidney:	embryo
6	chr6:27280603-27280653	ProgFib	skin:	n/a
7	chr6:27280603-27280653	NHDF-neo	bronchial:	n/a
8	chr6:27280603-27280653	HCF	heart:	n/a
9	chr6:27280603-27280653	MCF10A-Er-Src	breast:	n/a
10	chr6:27280603-27280653	IMR90	lung:	fetal
11	chr6:27280603-27280653	Jurkat	blood:	n/a
12	chr6:27280603-27280653	HCPEpiC	choroid plexus:	n/a
13	chr6:27280603-27280653	NHBE	bronchial:	n/a
14	chr6:27280603-27280653	HMEC	breast:	n/a
15	chr6:27280603-27280653	A549	lung:	n/a
16	chr6:27280603-27280653	U87	brain:	n/a
17	chr6:27280603-27280653	HL-60	blood:	n/a
18	chr6:27280603-27280653	BE2_C	brain:	n/a
19	chr6:27280603-27280653	MCF-7	breast:	n/a
20	chr6:27280603-27280653	BJ	skin:	n/a
21	chr6:27280603-27280653	GM19239	blood:	n/a
22	chr6:27280603-27280653	HEEpiC	esophagus:	n/a
23	chr6:27280603-27280653	HAEpiC	amniotic membrane:	n/a
24	chr6:27280603-27280653	ovcar-3	ovarian:	n/a
25	chr6:27280603-27280653	T-47D	breast:	n/a
26	chr6:27280603-27280653	LNCaP	prostate:	n/a
27	chr6:27280603-27280653	HUVEC	blood vessel:	n/a
28	chr6:27280603-27280653	GM12878	blood:	n/a
29	chr6:27280603-27280653	Caco-2	colon:	n/a
30	chr6:27280603-27280653	HCT-116	colon:	n/a
31	chr6:27280603-27280653	SK-N-MC	brain:	n/a
32	chr6:27280603-27280653	GM12891	blood:	n/a
33	chr6:27280603-27280653	AG09319	gingival:	n/a
34	chr6:27280603-27280653	RPTEC	kidney:	n/a
35	chr6:27280603-27280653	SKMC	muscle:	n/a
36	chr6:27280603-27280653	NB4	blood:	n/a
37	chr6:27280603-27280653	HIPEpiC	eye:	n/a
38	chr6:27280603-27280653	Hela-S3	cervix:	n/a
39	chr6:27280603-27280653	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:27280603-27280653	PFSK-1	brain:	n/a
41	chr6:27280603-27280653	HRCEpiC	kidney:	n/a
42	chr6:27280603-27280653	ECC-1	luminal epithelium:	n/a
43	chr6:27280603-27280653	Hepatocyte	liver:	n/a
44	chr6:27280603-27280653	AoSMC	blood vessel:	n/a
45	chr6:27280603-27280653	HepG2	liver:	n/a
46	chr6:27280603-27280653	GM06990	blood:	n/a
47	chr6:27280603-27280653	HRPEpiC	eye:	n/a
48	chr6:27280603-27280653	HNPCEpiC	eye:	n/a
49	chr6:27280603-27280653	SK-N-SH_RA	brain:	n/a
50	chr6:27280603-27280653	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27279187..27280995-chr6:27439360..27441808,2	MCF-7	breast:
2	chr6:27280335..27283011-chr6:27292973..27294490,2	K562	blood:

Variant related genes	Relation type
POM121L2	TF binding region
POM121L2	CpG island
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16895205	1.00[EUR][1000 genomes]
rs16899633	1.00[EUR][1000 genomes]
rs16899664	1.00[EUR][1000 genomes]
rs16899778	1.00[EUR][1000 genomes]
rs16899794	1.00[EUR][1000 genomes]
rs16899861	1.00[EUR][1000 genomes]
rs5030966	1.00[EUR][1000 genomes]
rs56141585	1.00[EUR][1000 genomes]
rs56773753	1.00[EUR][1000 genomes]
rs56980568	1.00[EUR][1000 genomes]
rs56982870	1.00[EUR][1000 genomes]
rs57123722	1.00[EUR][1000 genomes]
rs57349601	1.00[EUR][1000 genomes]
rs57509377	1.00[EUR][1000 genomes]
rs58669069	1.00[EUR][1000 genomes]
rs58685987	1.00[EUR][1000 genomes]
rs58942357	1.00[EUR][1000 genomes]
rs59659183	1.00[EUR][1000 genomes]
rs59813908	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59886985	1.00[EUR][1000 genomes]
rs61137579	1.00[EUR][1000 genomes]
rs61206558	1.00[EUR][1000 genomes]
rs61482673	1.00[EUR][1000 genomes]
rs61483696	1.00[EUR][1000 genomes]
rs61740349	1.00[EUR][1000 genomes]
rs61742445	1.00[EUR][1000 genomes]
rs73738714	1.00[EUR][1000 genomes]
rs73738764	1.00[EUR][1000 genomes]
rs73738772	1.00[EUR][1000 genomes]
rs73738775	1.00[EUR][1000 genomes]
rs73738795	1.00[EUR][1000 genomes]
rs73738796	1.00[EUR][1000 genomes]
rs73738798	1.00[EUR][1000 genomes]
rs73738799	1.00[EUR][1000 genomes]
rs73738802	1.00[EUR][1000 genomes]
rs73739596	1.00[EUR][1000 genomes]
rs73739597	1.00[EUR][1000 genomes]
rs73740430	1.00[EUR][1000 genomes]
rs73741704	1.00[EUR][1000 genomes]
rs73741705	1.00[EUR][1000 genomes]
rs73741706	1.00[EUR][1000 genomes]
rs73741716	1.00[EUR][1000 genomes]
rs766093	1.00[EUR][1000 genomes]
rs7744655	1.00[EUR][1000 genomes]
rs7750919	1.00[EUR][1000 genomes]
rs7751102	1.00[EUR][1000 genomes]
rs7758568	1.00[EUR][1000 genomes]
rs7765353	1.00[EUR][1000 genomes]
rs7768826	1.00[EUR][1000 genomes]
rs7773166	1.00[EUR][1000 genomes]
rs7775305	1.00[EUR][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv883506	chr6:27271343-27288687	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv883507	chr6:27279982-27318836	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27279400-27281000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27279400-27281000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27279400-27281000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:27279400-27281000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27279600-27280800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:27279600-27280800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:27279600-27280800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:27279600-27281000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27279600-27281000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:27279600-27281000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:27279800-27280800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
14	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:27279800-27280800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr6:27279800-27280800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr6:27279800-27280800	Active TSS	A549	lung
21	chr6:27279800-27280800	Bivalent/Poised TSS	HSMM	muscle
22	chr6:27279800-27281000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:27279800-27281000	Flanking Active TSS	HMEC	breast
24	chr6:27280000-27280800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr6:27280000-27280800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:27280000-27280800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:27280000-27280800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
32	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
33	chr6:27280000-27280800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr6:27280000-27280800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr6:27280000-27280800	Bivalent/Poised TSS	NH-A	brain
36	chr6:27280000-27280800	Active TSS	NHDF-Ad	bronchial
37	chr6:27280000-27280800	Active TSS	Osteobl	bone
38	chr6:27280000-27281000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr6:27280000-27281000	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr6:27280200-27280800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:27280200-27280800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:27280200-27280800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:27280200-27280800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:27280200-27280800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr6:27280200-27280800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr6:27280200-27280800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr6:27280200-27280800	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr6:27280200-27280800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:27280200-27280800	Bivalent/Poised TSS	Thymus	Thymus
50	chr6:27280200-27281000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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