Variant report

Variant	rs112748780
Chromosome Location	chr3:196073209-196073210
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	POLR2A	chr3:196072237-196073250	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
2	chr3:196072873..196076573-chr3:196158373..196161329,3	MCF-7	breast:
3	chr3:196071912..196074086-chr3:196075769..196077797,2	MCF-7	breast:
4	chr3:196013208..196015292-chr3:196071968..196073510,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-910P	TF binding region
ENSG00000163960	Chromatin interaction
ENSG00000213123	Chromatin interaction
ENSG00000235897	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000272741	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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 target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1836491	chr3:196051403-196078427	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196062800-196075000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:196065600-196074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:196065600-196074200	Weak transcription	HSMM	muscle
5	chr3:196065600-196075200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
7	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:196067000-196075400	Weak transcription	Placenta	Placenta
12	chr3:196067200-196074800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:196067400-196074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:196067600-196073600	Weak transcription	A549	lung
15	chr3:196067600-196074800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
17	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:196068400-196074800	Weak transcription	Hela-S3	cervix
19	chr3:196068400-196075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:196068400-196075200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:196068400-196075800	Weak transcription	NH-A	brain
22	chr3:196068600-196076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:196068600-196077600	Weak transcription	Osteobl	bone
24	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
26	chr3:196070000-196074800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:196070200-196075200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:196070400-196074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:196070400-196074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:196070400-196074200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:196070400-196074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:196070400-196076000	Weak transcription	Esophagus	oesophagus
34	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:196070400-196082400	Weak transcription	HMEC	breast
37	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:196070800-196074800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:196070800-196080800	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:196070800-196081200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:196070800-196081800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:196070800-196082600	Weak transcription	Aorta	Aorta
44	chr3:196071000-196074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:196071000-196075200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:196071000-196081000	Weak transcription	NHEK	skin
47	chr3:196071000-196081200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:196071000-196081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:196071000-196082600	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:196071200-196076000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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