Variant report

Variant	rs6999729
Chromosome Location	chr8:130951526-130951527
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	GABPA	chr8:130951473-130952734	MCF-7	breast:	n/a	chr8:130952245-130952254 chr8:130952135-130952146 chr8:130952135-130952144 chr8:130952137-130952146 chr8:130952135-130952149 chr8:130952132-130952146 chr8:130951740-130951754
2	E2F6	chr8:130951313-130952812	K562	blood:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
3	BCL3	chr8:130950992-130953051	A549	lung:	n/a	chr8:130951955-130951968 chr8:130951968-130951981 chr8:130951959-130951972 chr8:130952513-130952526
4	POLR2A	chr8:130951207-130952457	K562	blood:	n/a	n/a
5	POLR2A	chr8:130950882-130952527	GM12878	blood:	n/a	n/a
6	ELF1	chr8:130951229-130952707	GM12878	blood:	n/a	n/a
7	MYC	chr8:130951328-130952883	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
8	POLR2A	chr8:130951265-130952684	A549	lung:	n/a	n/a
9	NR2F2	chr8:130951520-130952788	MCF-7	breast:	n/a	n/a
10	MAX	chr8:130951182-130952843	HepG2	liver:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
11	ELF1	chr8:130951343-130952873	MCF-7	breast:	n/a	n/a
12	BCL3	chr8:130951447-130952309	GM12878	blood:	n/a	chr8:130951955-130951968 chr8:130951968-130951981 chr8:130951959-130951972
13	MXI1	chr8:130951365-130952756	HepG2	liver:	n/a	n/a
14	MAX	chr8:130951114-130952968	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
15	MAX	chr8:130951123-130953053	Hela-S3	cervix:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
16	POLR2A	chr8:130951468-130952286	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr8:130951020-130952904	HCT-116	colon:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
18	POLR2A	chr8:130951339-130952541	K562	blood:	n/a	n/a
19	POLR2A	chr8:130951216-130952682	H1-neurons	neurons:	n/a	n/a
20	SIN3AK20	chr8:130950938-130953054	MCF-7	breast:	n/a	n/a
21	MXI1	chr8:130951158-130952719	GM12878	blood:	n/a	n/a
22	CTCF	chr8:130951380-130951530	GM12866	blood:	n/a	n/a
23	EGR1	chr8:130951436-130952311	K562	blood:	n/a	chr8:130951566-130951576 chr8:130952100-130952109 chr8:130952245-130952255 chr8:130952290-130952300 chr8:130951952-130951965 chr8:130951563-130951578 chr8:130951567-130951577 chr8:130952136-130952145 chr8:130951564-130951577 chr8:130951564-130951577 chr8:130952079-130952092
24	GATA3	chr8:130951056-130951721	T-47D	breast:	n/a	n/a
25	POLR2A	chr8:130951454-130952414	H1-hESC	embryonic stem cell:	n/a	n/a
26	HA-E2F1	chr8:130951178-130952968	MCF-7	breast:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
27	CHD2	chr8:130951205-130952690	K562	blood:	n/a	chr8:130952214-130952224
28	GATA3	chr8:130951006-130951609	MCF-7	breast:	n/a	n/a
29	E2F1	chr8:130951360-130952781	Hela-S3	cervix:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
30	POLR2A	chr8:130951334-130952481	Raji	blood:	n/a	n/a
31	CCNT2	chr8:130951209-130952731	K562	blood:	n/a	chr8:130952213-130952222 chr8:130952198-130952207
32	POLR2A	chr8:130951258-130951640	A549	lung:	n/a	n/a
33	MYC	chr8:130951209-130952791	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
34	GATA3	chr8:130950959-130952912	A549	lung:	n/a	n/a
35	HA-E2F1	chr8:130951361-130952805	Hela-S3	cervix:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
36	ZBTB7A	chr8:130951437-130952731	ECC-1	luminal epithelium:	n/a	chr8:130952212-130952219 chr8:130952235-130952246
37	REST	chr8:130951072-130952966	H1-neurons	neurons:	n/a	chr8:130952287-130952300 chr8:130952310-130952318
38	ZNF263	chr8:130951175-130952704	HEK293-T-REx	kidney:	n/a	chr8:130952085-130952094 chr8:130952262-130952271
39	POLR2A	chr8:130951514-130952739	GM19099	blood:	n/a	n/a
40	ZBTB7A	chr8:130951216-130952875	ECC-1	luminal epithelium:	n/a	chr8:130952212-130952219 chr8:130952235-130952246
41	ZBTB7A	chr8:130951256-130952668	K562	blood:	n/a	chr8:130952212-130952219 chr8:130952235-130952246
42	POLR2A	chr8:130951127-130952640	K562	blood:	n/a	n/a
43	YY1	chr8:130951498-130952133	K562	blood:	n/a	chr8:130951569-130951578
44	TCF12	chr8:130951444-130952964	A549	lung:	n/a	n/a
45	MTA3	chr8:130951078-130952887	GM12878	blood:	n/a	n/a
46	HCFC1	chr8:130951249-130952814	K562	blood:	n/a	n/a
47	POLR2A	chr8:130951321-130952654	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:130951406-130951627	A549	lung:	n/a	n/a
49	MAX	chr8:130951009-130952962	HCT-116	colon:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
50	POLR2A	chr8:130951279-130952757	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
2	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
3	chr8:130950488..130952013-chr8:131029373..131031137,2	K562	blood:
4	chr8:130950627..130952678-chr8:131014268..131017998,3	K562	blood:
5	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
6	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
7	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:

Variant related genes	Relation type
ENSG00000253720	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253043	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs1871943	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	1.00[EUR][1000 genomes]
rs7825122	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130950000-130952600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:130950000-130952600	Active TSS	Fetal Intestine Large	intestine
3	chr8:130950200-130952800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:130950200-130952800	Active TSS	Psoas Muscle	Psoas
5	chr8:130950200-130953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:130950400-130953000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:130950600-130951600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:130950600-130951600	Flanking Active TSS	Fetal Brain Male	brain
9	chr8:130950600-130952400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr8:130950600-130952400	Active TSS	Fetal Muscle Leg	muscle
11	chr8:130950600-130952400	Active TSS	HSMM	muscle
12	chr8:130950600-130952600	Bivalent/Poised TSS	HepG2	liver
13	chr8:130950600-130952800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:130950600-130952800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:130950600-130953000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:130950600-130953000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:130950800-130951600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:130950800-130951600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr8:130950800-130951600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr8:130950800-130951600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:130950800-130951600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:130950800-130951600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:130950800-130951600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:130950800-130951600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:130950800-130951800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:130950800-130952200	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:130950800-130952400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:130950800-130952600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:130950800-130952600	Active TSS	Aorta	Aorta
30	chr8:130950800-130952800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:130950800-130952800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:130950800-130952800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:130950800-130953000	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:130951000-130951600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:130951000-130951600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr8:130951000-130951600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:130951000-130951600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:130951000-130951600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:130951000-130951800	Active TSS	Right Atrium	heart
40	chr8:130951000-130952200	Active TSS	HMEC	breast
41	chr8:130951000-130952400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:130951000-130952400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:130951000-130952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:130951000-130952400	Active TSS	GM12878-XiMat	blood
45	chr8:130951000-130952400	Active TSS	K562	blood
46	chr8:130951000-130952400	Active TSS	NHEK	skin
47	chr8:130951000-130952600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:130951000-130952600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:130951000-130952600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr8:130951000-130952600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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