Variant report

Variant	rs531469637
Chromosome Location	chr3:98516652-98516653
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	POLR2A	chr3:98516282-98517180	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:98516148-98517038	A549	lung:	n/a	n/a
3	POLR2A	chr3:98516179-98518840	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:98500239-98520630	U87	brain:	n/a	n/a
5	POLR2A	chr3:98516641-98516893	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr3:98500581-98518912	U87	brain:	n/a	n/a
7	POLR2A	chr3:98500433-98518912	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98505121..98508904-chr3:98514678..98518486,3	MCF-7	breast:

Variant related genes	Relation type
ST3GAL6	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv3368559	chr3:98516554-98517123	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98483000-98517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:98483200-98518000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:98484800-98529800	Weak transcription	Primary B cells from cord blood	blood
4	chr3:98490200-98525200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:98492200-98517800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:98497000-98524600	Weak transcription	Fetal Brain Male	brain
7	chr3:98497800-98517200	Weak transcription	Fetal Brain Female	brain
8	chr3:98502200-98519800	Weak transcription	Fetal Kidney	kidney
9	chr3:98502200-98523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:98502400-98523800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:98503400-98518200	Weak transcription	Ovary	ovary
12	chr3:98503400-98576400	Weak transcription	Gastric	stomach
13	chr3:98503600-98523800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:98504600-98517000	Weak transcription	HSMMtube	muscle
15	chr3:98504600-98519400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:98504600-98534800	Weak transcription	Small Intestine	intestine
17	chr3:98504800-98517400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:98505000-98525600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:98505400-98518400	Weak transcription	Fetal Thymus	thymus
20	chr3:98505400-98523800	Weak transcription	Pancreas	Pancrea
21	chr3:98505400-98524400	Weak transcription	Thymus	Thymus
22	chr3:98505800-98524600	Weak transcription	Psoas Muscle	Psoas
23	chr3:98506200-98518000	Weak transcription	Fetal Intestine Large	intestine
24	chr3:98506400-98519400	Weak transcription	Brain Anterior Caudate	brain
25	chr3:98506400-98524400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:98506800-98523800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:98507800-98517400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:98507800-98517400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:98507800-98518200	Weak transcription	Right Ventricle	heart
30	chr3:98507800-98529000	Weak transcription	Brain Substantia Nigra	brain
31	chr3:98508000-98519600	Weak transcription	Fetal Lung	lung
32	chr3:98508000-98524600	Weak transcription	GM12878-XiMat	blood
33	chr3:98508200-98524600	Weak transcription	Fetal Heart	heart
34	chr3:98511400-98518400	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:98512200-98521000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:98512400-98520800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr3:98512800-98520400	Strong transcription	HSMM	muscle
38	chr3:98513000-98520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:98513000-98524400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:98513400-98520600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:98513400-98520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:98513400-98520800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:98513400-98523800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:98513600-98516800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:98513600-98520800	Strong transcription	NH-A	brain
46	chr3:98513600-98536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr3:98513600-98539200	Weak transcription	Colonic Mucosa	Colon
48	chr3:98513800-98518200	Weak transcription	Lung	lung
49	chr3:98513800-98520600	Strong transcription	A549	lung
50	chr3:98513800-98520800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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