Variant report

Variant	rs569004822
Chromosome Location	chr3:195774448-195774449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195773121..195775698-chr3:195778391..195781329,2	MCF-7	breast:
2	chr3:195751254..195754207-chr3:195773192..195776278,3	K562	blood:
3	chr3:195774337..195776699-chr3:195790526..195792198,2	K562	blood:
4	chr3:195774337..195780265-chr3:195790698..195793878,6	K562	blood:

Variant related genes	Relation type
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	nsv1006165	chr3:195383130-195777211	Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv471621	chr3:195417664-195795474	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv469518	chr3:195623722-195795474	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv482784	chr3:195623722-195795474	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010395	chr3:195641908-195848264	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
11	esv1822059	chr3:195651349-195776737	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
12	esv1844691	chr3:195651349-195776737	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1820982	chr3:195651349-195835519	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
14	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
15	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
16	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
17	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
18	nsv1004940	chr3:195734933-195777211	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
20	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
21	nsv878172	chr3:195751853-195831098	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
22	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
24	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
25	nsv820015	chr3:195770699-195776215	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3461301	chr3:195772155-195776753	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
27	esv3461302	chr3:195773080-195775928	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
28	esv3461300	chr3:195773729-195775129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
29	nsv822414	chr3:195773738-195774763	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
30	esv3461298	chr3:195773767-195775135	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
31	esv3461299	chr3:195773858-195775028	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
32	esv3461303	chr3:195773913-195774979	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
33	esv1010060	chr3:195773990-195774763	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
34	nsv822415	chr3:195773990-195774763	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
35	esv11241	chr3:195774170-195774728	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
36	esv1005544	chr3:195774193-195774714	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195762800-195780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:195763000-195774600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:195765000-195775200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:195767200-195775400	Weak transcription	Fetal Brain Female	brain
5	chr3:195768400-195775200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:195768400-195781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:195768600-195775400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:195768600-195778800	Weak transcription	Fetal Stomach	stomach
9	chr3:195769000-195774600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:195769200-195776000	Weak transcription	K562	blood
11	chr3:195769400-195775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:195769600-195775400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:195769600-195775400	Weak transcription	Small Intestine	intestine
14	chr3:195769800-195775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:195769800-195775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:195769800-195775400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:195769800-195775800	Weak transcription	Aorta	Aorta
18	chr3:195769800-195776400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:195770000-195774800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:195770000-195775800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:195770000-195778800	Weak transcription	Gastric	stomach
22	chr3:195770200-195774600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:195770200-195775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:195770200-195775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:195770200-195775400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:195770200-195778000	Weak transcription	Ovary	ovary
27	chr3:195770200-195778800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:195770400-195776800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:195770400-195778200	Weak transcription	Fetal Kidney	kidney
30	chr3:195770600-195775800	Weak transcription	GM12878-XiMat	blood
31	chr3:195770800-195774600	Weak transcription	HMEC	breast
32	chr3:195770800-195776000	Weak transcription	Brain Germinal Matrix	brain
33	chr3:195771000-195774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:195771000-195775600	Weak transcription	NH-A	brain
35	chr3:195771000-195776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:195771200-195775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:195771400-195804000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:195771600-195776400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:195771800-195775400	Weak transcription	Esophagus	oesophagus
40	chr3:195771800-195775800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:195771800-195776400	Weak transcription	Colonic Mucosa	Colon
42	chr3:195771800-195778800	Weak transcription	Lung	lung
43	chr3:195772000-195775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:195772200-195775400	Weak transcription	Spleen	Spleen
45	chr3:195772200-195775600	Weak transcription	Fetal Intestine Large	intestine
46	chr3:195772200-195775800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:195772400-195781000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:195772600-195775200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:195772600-195775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:195772600-195775600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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