Variant report

Variant	rs4336644
Chromosome Location	chr8:121136128-121136129
allele	C/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	chr8:121135681-121136243	IMR90	lung:	n/a	chr8:121135886-121135905
2	CTCF	chr8:121135475-121137050	A549	lung:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121136520-121136528 chr8:121135886-121135902 chr8:121136563-121136576 chr8:121136567-121136576 chr8:121135887-121135908
3	MAX	chr8:121135781-121136669	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr8:121135739-121136276	HCT-116	colon:	n/a	n/a
5	RAD21	chr8:121135600-121136231	MCF-7	breast:	n/a	chr8:121135886-121135905
6	RAD21	chr8:121135617-121136304	HCT-116	colon:	n/a	chr8:121135886-121135905
7	SMC3	chr8:121135655-121136407	SK-N-SH	brain:	n/a	chr8:121135887-121135901
8	KAP1	chr8:121135761-121136991	U2OS	brain:	n/a	n/a
9	HA-E2F1	chr8:121135682-121137498	MCF-7	breast:	n/a	chr8:121136945-121136960 chr8:121135999-121136006
10	CTCF	chr8:121135611-121136904	HCT-116	colon:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121136520-121136528 chr8:121135886-121135902 chr8:121136563-121136576 chr8:121136567-121136576 chr8:121135887-121135908
11	MAX	chr8:121135672-121136407	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr8:121135765-121136199	MCF-7	breast:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
13	BACH1	chr8:121135717-121136175	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF263	chr8:121135781-121137800	HEK293-T-REx	kidney:	n/a	chr8:121137225-121137234
15	E2F6	chr8:121135693-121138879	H1-hESC	embryonic stem cell:	n/a	chr8:121137881-121137893 chr8:121137485-121137500 chr8:121136945-121136960 chr8:121137763-121137771 chr8:121137763-121137771 chr8:121135999-121136006 chr8:121137762-121137772 chr8:121138376-121138385
16	RAD21	chr8:121135631-121136158	HepG2	liver:	n/a	chr8:121135886-121135905
17	ESR1	chr8:121135950-121136148	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr8:121135477-121137040	SK-N-SH	brain:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121136520-121136528 chr8:121135886-121135902 chr8:121136563-121136576 chr8:121136567-121136576 chr8:121135887-121135908
19	ATF2	chr8:121135688-121136141	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr8:121135656-121136359	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:121135650-121136128	T-47D	breast:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
22	HMGN3	chr8:121136009-121136130	K562	blood:	n/a	n/a
23	MAX	chr8:121135694-121136389	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:121135756-121136240	GM12891	blood:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
25	YY1	chr8:121135684-121136279	H1-hESC	embryonic stem cell:	n/a	chr8:121136015-121136029
26	GTF2F1	chr8:121135798-121136266	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr8:121135841-121136765	H1-hESC	embryonic stem cell:	n/a	chr8:121135999-121136006
28	CTCF	chr8:121136104-121136249	GM19238	blood:	n/a	n/a
29	CTCF	chr8:121135699-121136237	MCF-7	breast:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
30	MYC	chr8:121136119-121136150	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:121135764-121136132	H1-hESC	embryonic stem cell:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
32	POLR2A	chr8:121136012-121136194	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:121135761-121136162	Fibrobl	skin:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
34	CTCF	chr8:121135751-121136137	H1-hESC	embryonic stem cell:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121135886-121135902 chr8:121135887-121135908
35	RAD21	chr8:121135618-121136400	ECC-1	luminal epithelium:	n/a	chr8:121135886-121135905
36	CTCF	chr8:121135682-121136846	IMR90	lung:	n/a	chr8:121135885-121135903 chr8:121135890-121135898 chr8:121136520-121136528 chr8:121135886-121135902 chr8:121136563-121136576 chr8:121136567-121136576 chr8:121135887-121135908
37	CTCF	chr8:121136120-121136245	GM19239	blood:	n/a	n/a
38	RAD21	chr8:121135707-121136839	H1-hESC	embryonic stem cell:	n/a	chr8:121136562-121136575 chr8:121136556-121136570 chr8:121135886-121135905
39	MAX	chr8:121135758-121136343	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr8:121135530-121136246	MCF-7	breast:	n/a	chr8:121135886-121135905
41	KAP1	chr8:121135727-121137805	HEK293	kidney:	n/a	n/a
42	TEAD4	chr8:121135672-121136391	ECC-1	luminal epithelium:	n/a	n/a
43	RAD21	chr8:121135608-121136231	H1-hESC	embryonic stem cell:	n/a	chr8:121135886-121135905
44	MAX	chr8:121135794-121136405	A549	lung:	n/a	n/a
45	RCOR1	chr8:121135903-121136171	HepG2	liver:	n/a	n/a
46	NFIC	chr8:121135616-121136349	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr8:121135773-121136225	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr8:121135535-121136873	HCT-116	colon:	n/a	chr8:121136562-121136575 chr8:121136556-121136570 chr8:121135886-121135905
49	MAX	chr8:121135666-121136447	A549	lung:	n/a	n/a
50	MAX	chr8:121135946-121136306	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:121135392..121136242-chr8:121433858..121434429,2	MCF-7	breast:
2	chr8:121135175..121137414-chr8:121356303..121358717,45	MCF-7	breast:
3	chr8:121135490..121136428-chr8:121433569..121434184,4	MCF-7	breast:
4	chr8:121134772..121137578-chr8:121356736..121359144,3	MCF-7	breast:
5	chr8:121135918..121136601-chr8:121951029..121951928,2	K562	blood:
6	chr8:121135412..121137333-chr8:121357344..121358726,20	MCF-7	breast:
7	chr8:121135850..121136688-chr8:121433864..121434413,2	K562	blood:

Variant related genes	Relation type
COL14A1	TF binding region
ENSG00000187955	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10101000	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10108373	0.83[AFR][1000 genomes]
rs10738134	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11988495	0.83[AFR][1000 genomes]
rs12546625	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680859	0.83[AFR][1000 genomes]
rs35529075	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282615	0.90[EUR][1000 genomes]
rs4407920	0.88[EUR][1000 genomes]
rs4407921	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4633103	0.82[AFR][1000 genomes]
rs4871039	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4871042	0.90[EUR][1000 genomes]
rs4871043	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871044	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66488706	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996015	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7459865	0.82[AFR][1000 genomes]
rs7460965	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827219	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv6364	chr8:121107149-121152206	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121135600-121136200	Bivalent Enhancer	Fetal Brain Male	brain
2	chr8:121135800-121136200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:121135800-121136200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:121135800-121136200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr8:121135800-121136200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:121135800-121136200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr8:121135800-121136200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:121135800-121136200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:121135800-121136200	Bivalent/Poised TSS	HepG2	liver
10	chr8:121135800-121136400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr8:121135800-121136400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
12	chr8:121135800-121136400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
13	chr8:121135800-121136400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:121135800-121136400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr8:121135800-121136400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr8:121135800-121136400	Bivalent/Poised TSS	Hela-S3	cervix
17	chr8:121135800-121136400	Active TSS	HSMMtube	muscle
18	chr8:121135800-121136400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr8:121135800-121136600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr8:121135800-121136600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:121135800-121136600	Active TSS	Brain Substantia Nigra	brain
22	chr8:121135800-121136600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr8:121135800-121136600	Flanking Active TSS	Osteobl	bone
24	chr8:121135800-121136800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:121135800-121136800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:121135800-121136800	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr8:121135800-121137000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:121135800-121137000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr8:121135800-121137000	Enhancers	Pancreas	Pancrea
30	chr8:121135800-121137000	Active TSS	Right Ventricle	heart
31	chr8:121135800-121137200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:121135800-121137400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:121135800-121137400	Active TSS	Left Ventricle	heart
34	chr8:121135800-121137600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr8:121135800-121137600	Active TSS	Brain Angular Gyrus	brain
36	chr8:121135800-121137600	Active TSS	Right Atrium	heart
37	chr8:121135800-121137800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr8:121135800-121137800	Active TSS	Fetal Kidney	kidney
39	chr8:121135800-121137800	Enhancers	Spleen	Spleen
40	chr8:121136000-121136200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:121136000-121136200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:121136000-121136200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:121136000-121136200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:121136000-121136200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:121136000-121136200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr8:121136000-121136200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:121136000-121136200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:121136000-121136200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:121136000-121136200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:121136000-121136200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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