Variant report

Variant	rs614256
Chromosome Location	chr7:4266036-4266037
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	chr7:4265910-4266450	H1-hESC	embryonic stem cell:	n/a	chr7:4266220-4266239
2	CTCF	chr7:4266020-4266170	RPTEC	kidney:	n/a	n/a
3	MAX	chr7:4265962-4266479	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:4265971-4266445	HCT-116	colon:	n/a	chr7:4266220-4266239
5	MAX	chr7:4265993-4266475	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:4266033-4266407	H1-hESC	embryonic stem cell:	n/a	chr7:4266222-4266235 chr7:4266220-4266236
7	RAD21	chr7:4265969-4266430	HCT-116	colon:	n/a	chr7:4266220-4266239
8	GATA3	chr7:4265848-4266097	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:4265994-4266324	H1-hESC	embryonic stem cell:	n/a	chr7:4266222-4266235 chr7:4266220-4266236
10	TEAD4	chr7:4266029-4266380	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr7:4266033-4266363	HepG2	liver:	n/a	chr7:4266220-4266239

Variant related genes	Relation type
SDK1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13224192	0.83[ASN][1000 genomes]
rs4723495	0.83[ASN][1000 genomes]
rs610962	0.84[EUR][1000 genomes]
rs611409	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs627704	0.92[ASN][1000 genomes]
rs631530	0.84[EUR][1000 genomes]
rs646591	0.87[ASN][1000 genomes]
rs647910	0.83[EUR][1000 genomes]
rs660109	0.83[EUR][1000 genomes]
rs661084	0.92[ASN][1000 genomes]
rs662366	0.83[EUR][1000 genomes]
rs662826	0.91[ASN][1000 genomes]
rs678098	0.83[EUR][1000 genomes]
rs688870	0.92[ASN][1000 genomes]
rs688884	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv518299	chr7:4116665-4286597	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv949581	chr7:4166659-4485938	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1820543	chr7:4167991-4286597	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv887341	chr7:4167991-4298625	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv887342	chr7:4182850-4293524	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1023367	chr7:4192258-4306053	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv887344	chr7:4211696-4393478	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv887345	chr7:4240085-4273289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv1029296	chr7:4243652-4276004	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4229800-4268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4235800-4287200	Weak transcription	Gastric	stomach
3	chr7:4242800-4267200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:4244400-4283800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:4244800-4283800	Weak transcription	Right Ventricle	heart
6	chr7:4250800-4267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:4251000-4266800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:4251000-4276600	Weak transcription	Aorta	Aorta
9	chr7:4255800-4284200	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:4256000-4266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:4256000-4283800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:4256400-4283800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:4259800-4283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:4260800-4266400	Strong transcription	Fetal Stomach	stomach
15	chr7:4261000-4271000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:4261200-4285000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:4262400-4266200	Weak transcription	Colonic Mucosa	Colon
18	chr7:4263800-4273200	Weak transcription	Pancreas	Pancrea
19	chr7:4263800-4281200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4264800-4266200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:4264800-4268200	Enhancers	Fetal Muscle Leg	muscle
22	chr7:4265000-4266400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:4265000-4266800	Enhancers	Brain Germinal Matrix	brain
24	chr7:4265000-4267000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:4265000-4267000	Strong transcription	Spleen	Spleen
26	chr7:4265200-4269000	Enhancers	Fetal Brain Male	brain
27	chr7:4265200-4283600	Weak transcription	Fetal Lung	lung
28	chr7:4265600-4266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:4265800-4266200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:4265800-4266600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4266000-4266800	Enhancers	Fetal Brain Female	brain
32	chr7:4266000-4268000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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