Variant report

Variant	rs571209302
Chromosome Location	chr7:97735439-97735440
allele	G/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	CTCF	chr7:97735380-97735530	HPF	lung:	n/a	n/a
2	GATA3	chr7:97735111-97735440	MCF-7	breast:	n/a	chr7:97735243-97735250 chr7:97735241-97735257
3	CTCF	chr7:97735380-97735530	HAc	cerebellar:	n/a	n/a
4	CTCF	chr7:97735300-97735450	HEEpiC	esophagus:	n/a	n/a
5	HCFC1	chr7:97735337-97736741	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr7:97735380-97735530	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr7:97735439-97736632	SK-N-SH	brain:	n/a	chr7:97736045-97736063 chr7:97736048-97736061
8	USF2	chr7:97735431-97736355	Hela-S3	cervix:	n/a	chr7:97736049-97736065 chr7:97736172-97736183
9	ZNF143	chr7:97735429-97736271	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr7:97735380-97735530	WI-38	lung:	n/a	n/a
11	CTCF	chr7:97735400-97735550	AG09319	gingival:	n/a	n/a
12	SP1	chr7:97735418-97736631	HCT-116	colon:	n/a	chr7:97736093-97736102 chr7:97736155-97736167 chr7:97736092-97736103 chr7:97736093-97736103 chr7:97736157-97736166 chr7:97735621-97735630 chr7:97736094-97736103 chr7:97736092-97736104 chr7:97736092-97736104 chr7:97736402-97736416
13	CTCF	chr7:97735380-97735530	AG10803	skin:	n/a	n/a
14	SMC3	chr7:97735292-97736695	SK-N-SH	brain:	n/a	chr7:97736047-97736061 chr7:97736051-97736061

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97727895..97730763-chr7:97733389..97735496,2	K562	blood:

Variant related genes	Relation type
LMTK2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv3411371	chr7:97735041-97737589	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97733600-97736000	Weak transcription	Right Atrium	heart
2	chr7:97734000-97736000	Enhancers	Fetal Intestine Small	intestine
3	chr7:97734600-97736000	Flanking Active TSS	HepG2	liver
4	chr7:97735200-97735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:97735200-97735600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:97735200-97735800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:97735200-97736000	Enhancers	Primary T cells from cord blood	blood
8	chr7:97735200-97736000	Enhancers	Fetal Intestine Large	intestine
9	chr7:97735400-97735600	Enhancers	Brain Angular Gyrus	brain
10	chr7:97735400-97735600	Enhancers	Brain Anterior Caudate	brain
11	chr7:97735400-97735600	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:97735400-97735600	Enhancers	Brain Hippocampus Middle	brain
13	chr7:97735400-97735600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:97735400-97735600	Flanking Active TSS	Esophagus	oesophagus
15	chr7:97735400-97735600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:97735400-97735600	Enhancers	Dnd41	blood
17	chr7:97735400-97735600	Active TSS	NHEK	skin
18	chr7:97735400-97735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:97735400-97735800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr7:97735400-97735800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:97735400-97735800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:97735400-97735800	Enhancers	Right Ventricle	heart
23	chr7:97735400-97735800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:97735400-97735800	Enhancers	HMEC	breast
25	chr7:97735400-97736000	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:97735400-97736000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr7:97735400-97736000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:97735400-97736000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:97735400-97736000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr7:97735400-97736000	Enhancers	Pancreas	Pancrea
31	chr7:97735400-97736000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:97735400-97736000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:97735400-97736000	Flanking Active TSS	Hela-S3	cervix
34	chr7:97735400-97736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach

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