Variant report

Variant	rs3821727
Chromosome Location	chr3:101572290-101572291
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101572198-101573053	K562	blood:	n/a	n/a
2	POLR2A	chr3:101567198-101574916	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:101571756-101573011	GM12892	blood:	n/a	n/a
4	POLR2A	chr3:101565720-101574900	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:101567627-101574860	GM12878	blood:	n/a	n/a
6	WRNIP1	chr3:101571750-101572670	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:101572177-101572817	K562	blood:	n/a	n/a
8	POLR2A	chr3:101572133-101572610	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:101571512-101574724	GM18505	blood:	n/a	n/a
10	POLR2A	chr3:101571802-101572820	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:101571647-101574739	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:101572033-101573146	K562	blood:	n/a	n/a
13	POLR2A	chr3:101569085-101574846	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:101572098-101572831	GM12892	blood:	n/a	n/a
15	POLR2A	chr3:101571603-101573176	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:101571684-101572886	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr3:101571912-101572668	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:101567553-101574820	IMR90	lung:	n/a	n/a
19	POLR2A	chr3:101571901-101572878	U87	brain:	n/a	n/a
20	POLR2A	chr3:101571622-101572855	GM12891	blood:	n/a	n/a
21	POLR2A	chr3:101567615-101574974	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr3:101571811-101572809	GM12878	blood:	n/a	n/a
23	CHD1	chr3:101568171-101574913	IMR90	lung:	n/a	n/a
24	POLR2A	chr3:101571656-101572817	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:101571698-101573214	GM12891	blood:	n/a	n/a
26	POLR2A	chr3:101572197-101572809	HepG2	liver:	n/a	n/a
27	POLR2A	chr3:101571658-101574759	A549	lung:	n/a	n/a
28	POLR2A	chr3:101571951-101572843	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr3:101572005-101572713	U87	brain:	n/a	n/a
30	POU2F2	chr3:101572214-101572690	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:101572232-101572304	ProgFib	skin:	n/a	n/a
32	POLR2A	chr3:101571676-101574197	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr3:101567371-101573695	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr3:101567162-101574755	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr3:101571944-101572887	GM12892	blood:	n/a	n/a
36	POLR2A	chr3:101571710-101573147	GM12891	blood:	n/a	n/a
37	POLR2A	chr3:101568040-101574948	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:101571666-101573228	GM12891	blood:	n/a	n/a
39	POLR2A	chr3:101572166-101573390	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr3:101572231-101572513	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr3:101572284-101572569	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:101567611-101574981	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101570369..101573097-chr3:101618307..101620488,2	MCF-7	breast:
2	chr3:101570653..101572581-chr3:101834982..101836970,2	MCF-7	breast:
3	chr3:101544475..101550800-chr3:101565965..101572617,10	K562	blood:
4	chr3:101543661..101554550-chr3:101566310..101574179,30	MCF-7	breast:
5	chr3:101544575..101547702-chr3:101571117..101572871,3	K562	blood:
6	chr3:101570471..101572407-chr3:101832764..101834388,2	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBIZ	TF binding region
ENSG00000144802	Chromatin interaction
ENSG00000249474	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs665631	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101568600-101572600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr3:101568800-101572400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:101569200-101573600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:101569400-101573000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:101569800-101576400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:101570000-101572600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:101570000-101572600	Transcr. at gene 5' and 3'	HSMM	muscle
8	chr3:101570000-101574400	Weak transcription	Fetal Brain Female	brain
9	chr3:101570000-101578000	Weak transcription	Brain Germinal Matrix	brain
10	chr3:101570000-101579200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:101570200-101574800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
12	chr3:101570400-101573000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
13	chr3:101570400-101574800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr3:101570400-101598400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:101570600-101572600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:101570600-101572600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
17	chr3:101570600-101572600	Transcr. at gene 5' and 3'	Liver	Liver
18	chr3:101570600-101572600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr3:101570600-101573200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr3:101570600-101573200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
21	chr3:101570600-101574200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr3:101570600-101577600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
23	chr3:101570800-101572400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
24	chr3:101570800-101572800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:101570800-101576600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
26	chr3:101570800-101579400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:101570800-101580600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:101570800-101580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:101570800-101580800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:101570800-101580800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:101571000-101572400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
32	chr3:101571000-101574200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
33	chr3:101571000-101574400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:101571000-101574800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr3:101571000-101574800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
36	chr3:101571000-101575000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:101571000-101576000	Strong transcription	Brain Anterior Caudate	brain
38	chr3:101571000-101576800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:101571000-101577200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:101571000-101579400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr3:101571000-101579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:101571000-101579400	Strong transcription	Dnd41	blood
43	chr3:101571000-101580000	Strong transcription	Fetal Lung	lung
44	chr3:101571000-101580600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:101571000-101581400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:101571200-101572600	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr3:101571200-101572600	Genic enhancers	Placenta	Placenta
48	chr3:101571200-101572600	Genic enhancers	Left Ventricle	heart
49	chr3:101571200-101572800	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr3:101571200-101572800	Genic enhancers	NHDF-Ad	bronchial

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