Variant report

Variant	rs528442752
Chromosome Location	chr3:191070273-191070274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv461054	chr3:191060954-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv592821	chr3:191060954-191073228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv461055	chr3:191061214-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv461056	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv592824	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv878105	chr3:191061214-191073228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1821963	chr3:191061952-191071078	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3463845	chr3:191063058-191070856	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3463846	chr3:191063058-191070856	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3429054	chr3:191063458-191072756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv437353	chr3:191063743-191073228	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv437354	chr3:191063743-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3486622	chr3:191063908-191072706	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1803444	chr3:191063961-191071078	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1806634	chr3:191063961-191071078	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1851287	chr3:191063961-191071078	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv965411	chr3:191064232-191071728	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv10371	chr3:191064248-191071834	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv3463078	chr3:191064302-191071930	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv1822673	chr3:191064330-191071078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv592826	chr3:191064528-191070810	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv592827	chr3:191064528-191073228	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv3463076	chr3:191064547-191071768	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv435761	chr3:191064550-191073833	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	esv3486623	chr3:191064583-191071753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv3486618	chr3:191064586-191071714	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv3463079	chr3:191064602-191071736	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1793675	chr3:191064603-191071278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1798817	chr3:191064603-191071278	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1804448	chr3:191064603-191071278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv1811504	chr3:191064603-191071278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv1815214	chr3:191064603-191071278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	esv1822357	chr3:191064603-191071278	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	esv1844491	chr3:191064603-191071278	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv1849347	chr3:191064603-191071278	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	esv3463077	chr3:191064603-191071734	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv3486621	chr3:191064604-191071722	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv3463075	chr3:191064623-191071695	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:191061000-191070800	Weak transcription	Lung	lung
4	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:191062000-191075600	Weak transcription	K562	blood
7	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
8	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
9	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
10	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:191065400-191071400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:191066600-191071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:191067400-191071000	Enhancers	Liver	Liver
15	chr3:191067600-191070600	Enhancers	HepG2	liver
16	chr3:191067600-191070800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:191067600-191071600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:191067800-191070800	Enhancers	Fetal Heart	heart
19	chr3:191067800-191071000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:191067800-191071200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:191067800-191071600	Enhancers	Adipose Nuclei	Adipose
22	chr3:191068000-191070400	Enhancers	Hela-S3	cervix
23	chr3:191068000-191070800	Weak transcription	GM12878-XiMat	blood
24	chr3:191068000-191071400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr3:191068200-191071400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:191068200-191072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:191068400-191073200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:191068600-191071400	Enhancers	Fetal Lung	lung
29	chr3:191068600-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:191068600-191073800	Weak transcription	NHLF	lung
31	chr3:191068600-191074600	Weak transcription	Fetal Stomach	stomach
32	chr3:191068600-191075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:191068600-191075000	Weak transcription	Aorta	Aorta
34	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
35	chr3:191068800-191070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:191068800-191070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:191068800-191070800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:191068800-191070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:191068800-191071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:191068800-191071400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:191068800-191073400	Weak transcription	Osteobl	bone
42	chr3:191068800-191073600	Weak transcription	HSMM	muscle
43	chr3:191068800-191075400	Enhancers	Colon Smooth Muscle	Colon
44	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
45	chr3:191069000-191070600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:191069000-191071600	Enhancers	A549	lung
47	chr3:191069200-191070400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:191069400-191074200	Enhancers	HUVEC	blood vessel
49	chr3:191069400-191075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:191069600-191070600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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