Variant report

Variant	rs572315542
Chromosome Location	chr3:43329072-43329073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43328576..43330209-chr3:43363736..43365348,2	K562	blood:
2	chr3:43328082..43330424-chr3:43353703..43355564,2	K562	blood:
3	chr3:43320796..43322949-chr3:43328990..43330664,2	K562	blood:
4	chr3:43327640..43330625-chr3:43731199..43733951,3	K562	blood:
5	chr3:43328259..43329793-chr3:43345734..43348023,2	K562	blood:
6	chr3:43328459..43331117-chr3:43356191..43358697,2	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000241939	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3420235	chr3:43326048-43330246	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription 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	10 gene(s)	inside rSNPs	diseases
5	esv3527908	chr3:43327298-43329521	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3527909	chr3:43327298-43329521	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv590153	chr3:43327873-43329913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv590154	chr3:43327873-43334020	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv590155	chr3:43327873-43334878	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv590157	chr3:43327924-43329913	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv590158	chr3:43327924-43334878	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv590159	chr3:43328010-43329913	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv590160	chr3:43328076-43334878	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43327200-43329200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:43327200-43329200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:43327400-43329200	Active TSS	Lung	lung
4	chr3:43327400-43329400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:43327400-43329800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:43327400-43330200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr3:43327400-43330600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:43327400-43332000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr3:43327600-43329200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:43327600-43329200	Active TSS	Liver	Liver
11	chr3:43327600-43329200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr3:43327600-43329200	Active TSS	Gastric	stomach
13	chr3:43327600-43329200	Active TSS	Pancreas	Pancrea
14	chr3:43327600-43329200	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr3:43327600-43329400	Active TSS	Aorta	Aorta
16	chr3:43327600-43329400	Active TSS	Duodenum Mucosa	Duodenum
17	chr3:43327600-43329400	Active TSS	Esophagus	oesophagus
18	chr3:43327600-43329400	Active TSS	Fetal Intestine Large	intestine
19	chr3:43327600-43329400	Active TSS	Placenta	Placenta
20	chr3:43327600-43329400	Active TSS	Left Ventricle	heart
21	chr3:43327600-43329400	Active TSS	NHLF	lung
22	chr3:43327600-43329600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:43327600-43329800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:43327600-43330200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:43327600-43330200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:43327600-43330200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:43327600-43330200	Active TSS	Colon Smooth Muscle	Colon
28	chr3:43327600-43330200	Active TSS	Fetal Intestine Small	intestine
29	chr3:43327600-43330200	Active TSS	Rectal Smooth Muscle	rectum
30	chr3:43327600-43330400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:43327600-43330400	Active TSS	Primary T cells from cord blood	blood
32	chr3:43327600-43330400	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr3:43327600-43330400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:43327600-43330400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:43327600-43330400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:43327600-43330400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:43327600-43330400	Active TSS	Colonic Mucosa	Colon
38	chr3:43327600-43330400	Active TSS	Fetal Thymus	thymus
39	chr3:43327600-43330400	Active TSS	Ovary	ovary
40	chr3:43327600-43330400	Active TSS	Right Atrium	heart
41	chr3:43327600-43330400	Active TSS	HMEC	breast
42	chr3:43327600-43330400	Active TSS	HUVEC	blood vessel
43	chr3:43327600-43330600	Active TSS	Psoas Muscle	Psoas
44	chr3:43327600-43330600	Active TSS	Right Ventricle	heart
45	chr3:43327600-43330600	Active TSS	Thymus	Thymus
46	chr3:43327600-43330600	Active TSS	GM12878-XiMat	blood
47	chr3:43327600-43330600	Active TSS	NHDF-Ad	bronchial
48	chr3:43327800-43329200	Active TSS	Spleen	Spleen
49	chr3:43327800-43329400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr3:43327800-43329400	Active TSS	Small Intestine	intestine

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