Variant report

Variant	rs369201950
Chromosome Location	chr3:49197695-49197696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49197673..49199686-chr3:49449232..49451070,2	K562	blood:
2	chr3:49195402..49201533-chr3:49207296..49212401,9	MCF-7	breast:
3	chr3:49043216..49045196-chr3:49196235..49197868,2	K562	blood:

Variant related genes	Relation type
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000185909	Chromatin interaction
ENSG00000178252	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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv3490861	chr3:49196144-49198530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3403660	chr3:49197548-49198596	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv8967	chr3:49197550-49198293	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2063886	chr3:49197581-49198251	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3461839	chr3:49197634-49198167	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3490862	chr3:49197638-49198185	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3490860	chr3:49197677-49198109	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3428996	chr3:49197677-49198192	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3461837	chr3:49197693-49198141	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	esv3712	chr3:49197694-49198254	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3447982	chr3:49197695-49198126	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49172200-49200400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:49186200-49198800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:49186800-49198800	Weak transcription	Pancreas	Pancrea
4	chr3:49191000-49198800	Weak transcription	Ovary	ovary
5	chr3:49191000-49199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:49191400-49198800	Weak transcription	Gastric	stomach
7	chr3:49191400-49199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:49191600-49200200	Weak transcription	Esophagus	oesophagus
9	chr3:49192000-49198000	Weak transcription	Thymus	Thymus
10	chr3:49192200-49198600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:49194400-49198200	Weak transcription	Brain Germinal Matrix	brain
12	chr3:49194400-49199000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:49194600-49198200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:49194600-49198800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:49194800-49198200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:49195000-49198200	Weak transcription	Fetal Brain Female	brain
17	chr3:49195000-49198200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:49195000-49199600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:49195200-49199400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:49195200-49200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:49195200-49202400	Weak transcription	Fetal Kidney	kidney
22	chr3:49195400-49198800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:49195400-49200400	Weak transcription	Brain Angular Gyrus	brain
24	chr3:49195600-49198200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:49195600-49198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:49195600-49198600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:49195600-49198600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:49195600-49198800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:49195600-49198800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:49195600-49198800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:49195600-49199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:49195600-49199400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:49195600-49199400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:49195600-49200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:49195600-49200200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:49195600-49200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:49195600-49200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:49195600-49200400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:49195600-49200400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:49195600-49202200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:49195800-49198000	Weak transcription	Fetal Intestine Small	intestine
42	chr3:49195800-49198200	Weak transcription	Brain Substantia Nigra	brain
43	chr3:49195800-49198800	Weak transcription	Fetal Intestine Large	intestine
44	chr3:49195800-49199600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:49196000-49198200	Weak transcription	Fetal Thymus	thymus
46	chr3:49196000-49202400	Strong transcription	Fetal Stomach	stomach
47	chr3:49196200-49200200	Weak transcription	Fetal Lung	lung
48	chr3:49196400-49198800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:49196400-49199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:49196400-49200400	Weak transcription	HepG2	liver

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