Variant report

Variant	rs3735260
Chromosome Location	chr7:69064637-69064638
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	POLR2A	chr7:69064211-69065054	Raji	blood:	n/a	n/a
2	RAD21	chr7:69064268-69064734	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr7:69063828-69064642	PANC-1	pancreas:	n/a	chr7:69064245-69064261 chr7:69064245-69064261
4	POLR2A	chr7:69064122-69065641	H1-neurons	neurons:	n/a	n/a
5	ZEB1	chr7:69064388-69064646	GM12878	blood:	n/a	n/a
6	YY1	chr7:69064082-69064666	SK-N-SH_RA	brain:	n/a	chr7:69064211-69064220
7	CTCF	chr7:69064540-69064690	HCPEpiC	choroid plexus:	n/a	n/a
8	SIN3AK20	chr7:69064160-69064766	SK-N-SH	brain:	n/a	n/a
9	YY1	chr7:69063938-69065078	GM12878	blood:	n/a	chr7:69064211-69064220 chr7:69064996-69065007 chr7:69064071-69064082 chr7:69064070-69064079
10	RAD21	chr7:69064207-69064741	SK-N-SH_RA	brain:	n/a	n/a
11	YY1	chr7:69064198-69064682	H1-hESC	embryonic stem cell:	n/a	chr7:69064211-69064220
12	SIN3AK20	chr7:69064394-69064644	PFSK-1	brain:	n/a	n/a
13	RAD21	chr7:69064178-69065625	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF263	chr7:69064258-69065804	HEK293-T-REx	kidney:	n/a	chr7:69065589-69065598 chr7:69064431-69064452
15	ZNF143	chr7:69064261-69065491	H1-hESC	embryonic stem cell:	n/a	chr7:69064623-69064633 chr7:69065180-69065190 chr7:69065000-69065010
16	CTBP2	chr7:69064293-69065439	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a
18	RUNX3	chr7:69064375-69064743	GM12878	blood:	n/a	n/a
19	EGR1	chr7:69064277-69064688	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr7:69064359-69064746	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr7:69064311-69064704	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr7:69064137-69064731	SK-N-SH	brain:	n/a	chr7:69064211-69064220
23	POLR2A	chr7:69064541-69064683	GM12878	blood:	n/a	n/a
24	ELF1	chr7:69064279-69065303	GM12878	blood:	n/a	n/a
25	YY1	chr7:69064264-69064664	GM12891	blood:	n/a	n/a
26	SIN3AK20	chr7:69064254-69064671	H1-hESC	embryonic stem cell:	n/a	n/a
27	HDAC2	chr7:69064436-69064714	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr7:69062980-69066006	H1-neurons	neurons:	n/a	chr7:69065023-69065036 chr7:69063407-69063420 chr7:69063422-69063435 chr7:69065010-69065023 chr7:69065096-69065106 chr7:69064001-69064014
29	YY1	chr7:69063653-69064747	SK-N-SH_RA	brain:	n/a	chr7:69064211-69064220 chr7:69064071-69064082 chr7:69064070-69064079
30	SIN3A	chr7:69063635-69065467	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:69064520-69064670	AG04449	skin:	n/a	n/a
32	ZNF384	chr7:69064443-69064707	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:69064406-69065620	H1-neurons	neurons:	n/a	n/a
34	YY1	chr7:69064203-69064786	H1-hESC	embryonic stem cell:	n/a	chr7:69064211-69064220

Variant related genes	Relation type
ENSG00000234215	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10229578	0.81[ASN][1000 genomes]
rs10230750	0.81[ASN][1000 genomes]
rs10233869	0.85[ASN][1000 genomes]
rs10236103	0.95[ASN][1000 genomes]
rs10238307	0.95[ASN][1000 genomes]
rs10240462	0.81[ASN][1000 genomes]
rs10241446	0.91[ASN][1000 genomes]
rs10242206	0.81[ASN][1000 genomes]
rs10244001	0.81[ASN][1000 genomes]
rs10244128	0.81[ASN][1000 genomes]
rs10244247	0.81[ASN][1000 genomes]
rs10245493	0.95[ASN][1000 genomes]
rs10247386	0.81[ASN][1000 genomes]
rs10248237	0.81[ASN][1000 genomes]
rs10255563	0.81[ASN][1000 genomes]
rs10255613	0.95[ASN][1000 genomes]
rs10256309	0.90[ASN][1000 genomes]
rs10256311	0.95[ASN][1000 genomes]
rs10256512	0.81[ASN][1000 genomes]
rs10256943	0.95[ASN][1000 genomes]
rs10257587	0.85[ASN][1000 genomes]
rs10261380	0.95[ASN][1000 genomes]
rs10261510	0.86[ASN][1000 genomes]
rs10263467	0.81[ASN][1000 genomes]
rs10268221	0.90[ASN][1000 genomes]
rs10268457	0.90[ASN][1000 genomes]
rs10276664	0.98[ASN][1000 genomes]
rs10279708	0.81[ASN][1000 genomes]
rs10280018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10281575	0.90[ASN][1000 genomes]
rs10281579	0.90[ASN][1000 genomes]
rs11764277	0.85[ASN][1000 genomes]
rs11764717	0.81[ASN][1000 genomes]
rs11773581	0.90[ASN][1000 genomes]
rs11975481	0.81[ASN][1000 genomes]
rs12334231	0.85[ASN][1000 genomes]
rs12334234	0.90[ASN][1000 genomes]
rs17140693	0.95[ASN][1000 genomes]
rs17140755	0.90[ASN][1000 genomes]
rs17140759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17140783	0.85[ASN][1000 genomes]
rs17140817	0.81[ASN][1000 genomes]
rs2068718	0.81[ASN][1000 genomes]
rs28493290	0.85[ASN][1000 genomes]
rs28524600	0.95[ASN][1000 genomes]
rs28577243	0.85[ASN][1000 genomes]
rs4305786	0.85[ASN][1000 genomes]
rs55654955	0.85[ASN][1000 genomes]
rs55693719	0.95[ASN][1000 genomes]
rs55756263	0.81[ASN][1000 genomes]
rs55847506	0.95[ASN][1000 genomes]
rs55880824	0.85[ASN][1000 genomes]
rs55901635	0.86[ASN][1000 genomes]
rs56800568	0.95[ASN][1000 genomes]
rs59342262	0.86[ASN][1000 genomes]
rs59517352	0.86[ASN][1000 genomes]
rs61424317	0.85[ASN][1000 genomes]
rs61692535	0.95[ASN][1000 genomes]
rs61744589	0.98[ASN][1000 genomes]
rs62454937	0.95[ASN][1000 genomes]
rs62454938	0.95[ASN][1000 genomes]
rs6460525	0.81[ASN][1000 genomes]
rs6950638	0.95[ASN][1000 genomes]
rs6951770	0.95[ASN][1000 genomes]
rs6977472	0.95[ASN][1000 genomes]
rs717266	0.95[ASN][1000 genomes]
rs73155227	0.95[ASN][1000 genomes]
rs73164795	0.85[ASN][1000 genomes]
rs73166559	0.81[ASN][1000 genomes]
rs73167506	0.95[ASN][1000 genomes]
rs73170834	0.81[ASN][1000 genomes]
rs73170852	0.81[ASN][1000 genomes]
rs7357113	0.95[ASN][1000 genomes]
rs7777269	0.81[ASN][1000 genomes]
rs7787342	0.95[ASN][1000 genomes]
rs7787695	0.87[ASN][1000 genomes]
rs7801209	0.81[ASN][1000 genomes]
rs7810982	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5783	chr7:69048608-69066760	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3340834	chr7:69061816-69066664	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3330381	chr7:69062041-69064889	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
2	chr7:69061800-69065200	Active TSS	Brain Hippocampus Middle	brain
3	chr7:69061800-69065200	Active TSS	Fetal Lung	lung
4	chr7:69061800-69065400	Active TSS	Aorta	Aorta
5	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
9	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:69062000-69064800	Active TSS	Osteobl	bone
11	chr7:69062000-69065000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:69062000-69065400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:69062000-69065400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:69062000-69065400	Active TSS	Fetal Intestine Large	intestine
15	chr7:69062000-69065400	Active TSS	NH-A	brain
16	chr7:69062000-69065600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:69062000-69065600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:69062000-69065600	Active TSS	Brain Substantia Nigra	brain
19	chr7:69062000-69065600	Active TSS	Fetal Intestine Small	intestine
20	chr7:69062000-69066000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:69062000-69066000	Active TSS	Ovary	ovary
22	chr7:69062000-69066200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:69062000-69066200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:69062000-69066400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:69062000-69066400	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:69062000-69066400	Active TSS	NHDF-Ad	bronchial
27	chr7:69062200-69064800	Active TSS	Gastric	stomach
28	chr7:69062200-69064800	Active TSS	Pancreas	Pancrea
29	chr7:69062200-69065000	Active TSS	Right Ventricle	heart
30	chr7:69062200-69065000	Active TSS	NHLF	lung
31	chr7:69062200-69065200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:69062200-69065200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:69062200-69065200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:69062200-69065200	Active TSS	Left Ventricle	heart
35	chr7:69062200-69065600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:69062200-69065600	Active TSS	Psoas Muscle	Psoas
37	chr7:69062200-69065800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:69062200-69065800	Active TSS	Colon Smooth Muscle	Colon
39	chr7:69062200-69065800	Active TSS	Right Atrium	heart
40	chr7:69062200-69066800	Active TSS	Brain Anterior Caudate	brain
41	chr7:69062400-69064800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:69062400-69065000	Active TSS	Fetal Muscle Leg	muscle
43	chr7:69062400-69065000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:69062400-69065200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:69062400-69065200	Active TSS	A549	lung
46	chr7:69062400-69065200	Active TSS	HSMMtube	muscle
47	chr7:69062400-69065400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
48	chr7:69062400-69065600	Active TSS	HSMM	muscle
49	chr7:69062400-69066000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:69062600-69065200	Active TSS	Dnd41	blood

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