Variant report

Variant	rs7744664
Chromosome Location	chr6:167413729-167413730
allele	C/T
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	MXI1	chr6:167410690-167413888	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:167411833-167413824	K562	blood:	n/a	n/a
3	MAX	chr6:167412351-167413870	Hela-S3	cervix:	n/a	n/a
4	EP300	chr6:167412284-167414273	K562	blood:	n/a	chr6:167412352-167412368 chr6:167412355-167412371 chr6:167412645-167412661 chr6:167412352-167412361 chr6:167412785-167412801
5	E2F4	chr6:167410844-167413816	MCF10A-Er-Src	breast:	n/a	chr6:167412658-167412667 chr6:167412069-167412078 chr6:167412074-167412084 chr6:167411948-167411958 chr6:167412750-167412759 chr6:167411611-167411621
6	IRF1	chr6:167412334-167413922	K562	blood:	n/a	chr6:167412381-167412394 chr6:167412746-167412760 chr6:167412654-167412668 chr6:167412767-167412781 chr6:167412620-167412634 chr6:167412793-167412807
7	MAX	chr6:167412052-167413738	HepG2	liver:	n/a	n/a
8	IRF1	chr6:167412252-167413936	K562	blood:	n/a	chr6:167412381-167412394 chr6:167412746-167412760 chr6:167412654-167412668 chr6:167412767-167412781 chr6:167412620-167412634 chr6:167412793-167412807
9	MYC	chr6:167413621-167414192	MCF10A-Er-Src	breast:	n/a	n/a
10	ESRRA	chr6:167412012-167414130	GM12878	blood:	n/a	chr6:167412734-167412753
11	MYBL2	chr6:167413141-167413751	HepG2	liver:	n/a	n/a
12	MYC	chr6:167413454-167413796	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr6:167413228-167413816	HepG2	liver:	n/a	n/a
14	MXI1	chr6:167410561-167413757	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
2	chr6:167369620..167371640-chr6:167412068..167415220,3	K562	blood:
3	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:

Variant related genes	Relation type
ENSG00000227598	TF binding region
MIR3939	TF binding region
ENSG00000026297	Chromatin interaction
ENSG00000249141	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs16899770	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899771	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899777	0.92[ASN][1000 genomes]
rs16899781	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899788	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899799	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899801	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899809	0.96[ASN][1000 genomes]
rs16899811	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899812	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899821	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899825	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899828	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899831	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899833	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899835	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899837	0.84[EUR][1000 genomes]
rs17856382	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282859	0.95[EUR][1000 genomes]
rs2301437	0.95[EUR][1000 genomes]
rs34585172	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752519	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs375883	0.90[ASN][1000 genomes]
rs3798308	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798309	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798310	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798311	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798312	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798313	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822914	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs388036	0.90[ASN][1000 genomes]
rs41269603	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41269605	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41269607	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs414431	0.90[ASN][1000 genomes]
rs415356	0.86[ASN][1000 genomes]
rs425145	0.90[ASN][1000 genomes]
rs435359	0.90[ASN][1000 genomes]
rs56028052	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56266102	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751042	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6456142	0.89[AFR][1000 genomes]
rs6456144	0.85[AFR][1000 genomes]
rs6905912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907735	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922071	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6941099	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73024229	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73024302	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026203	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026206	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026207	0.95[EUR][1000 genomes]
rs73026210	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026212	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026214	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026216	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026224	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026225	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026226	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026230	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026236	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026238	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026240	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026241	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026247	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026249	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026251	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028276	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028277	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028278	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028283	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028285	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028286	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028287	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028288	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028290	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028292	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028293	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028295	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028297	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028298	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73028301	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030105	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030106	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030108	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030112	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030117	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73030122	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73030125	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73030128	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73030129	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73031587	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73031588	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73031589	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73031596	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73033003	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033006	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033009	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033012	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033013	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033017	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033024	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033025	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033027	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033031	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033033	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033036	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73033038	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73035055	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73035056	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73035058	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73035071	0.84[EUR][1000 genomes]
rs73035084	0.84[EUR][1000 genomes]
rs73035085	0.84[EUR][1000 genomes]
rs73035091	0.84[EUR][1000 genomes]
rs73037103	0.84[EUR][1000 genomes]
rs73041500	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73043118	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73043122	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73043135	0.89[EUR][1000 genomes]
rs73043163	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr6:167411000-167413800	Active TSS	Fetal Brain Female	brain
2	chr6:167411000-167414000	Active TSS	Hela-S3	cervix
3	chr6:167411200-167413800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:167411200-167413800	Active TSS	HSMMtube	muscle
5	chr6:167411200-167414000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:167411200-167414200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:167411400-167413800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:167411400-167413800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:167411400-167413800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:167411400-167413800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:167411400-167413800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:167411400-167413800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:167411400-167413800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:167411400-167413800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:167411400-167413800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:167411400-167413800	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:167411400-167413800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:167411400-167413800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:167411400-167413800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:167411400-167413800	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:167411400-167413800	Active TSS	Stomach Mucosa	stomach
22	chr6:167411400-167413800	Active TSS	HMEC	breast
23	chr6:167411400-167413800	Active TSS	NHDF-Ad	bronchial
24	chr6:167411400-167413800	Active TSS	NHEK	skin
25	chr6:167411400-167414000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:167411400-167414000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:167411400-167414000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:167411400-167414000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr6:167411400-167414000	Active TSS	Fetal Intestine Large	intestine
30	chr6:167411400-167414000	Active TSS	NHLF	lung
31	chr6:167411400-167414200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:167411400-167414200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:167411400-167414400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:167411400-167414400	Active TSS	A549	lung
35	chr6:167411400-167414400	Active TSS	HSMM	muscle
36	chr6:167411600-167413800	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:167411600-167413800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr6:167411600-167413800	Active TSS	Brain Anterior Caudate	brain
39	chr6:167411600-167413800	Active TSS	Brain Hippocampus Middle	brain
40	chr6:167411600-167413800	Active TSS	Duodenum Mucosa	Duodenum
41	chr6:167411600-167413800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:167411600-167413800	Active TSS	Fetal Muscle Leg	muscle
43	chr6:167411600-167413800	Active TSS	NH-A	brain
44	chr6:167411600-167414000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:167411600-167414000	Active TSS	Fetal Intestine Small	intestine
46	chr6:167411600-167414000	Active TSS	Thymus	Thymus
47	chr6:167411600-167414000	Active TSS	GM12878-XiMat	blood
48	chr6:167411600-167414200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr6:167411600-167414200	Active TSS	Fetal Lung	lung
50	chr6:167411600-167414200	Active TSS	Fetal Thymus	thymus

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