Variant report

Variant	rs3213354
Chromosome Location	chr19:44059258-44059259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr19:44059187-44059675	MCF-7	breast:	n/a	n/a
2	SMC3	chr19:44058961-44059806	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr19:44059141-44059867	A549	lung:	n/a	n/a
4	RAD21	chr19:44059256-44059856	HCT-116	colon:	n/a	n/a
5	CTCF	chr19:44059217-44059817	HCT-116	colon:	n/a	n/a
6	MAFF	chr19:44059238-44059429	K562	blood:	n/a	n/a
7	CTCF	chr19:44059120-44059270	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr19:44059232-44059799	MCF-7	breast:	n/a	n/a
9	RAD21	chr19:44059245-44059733	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:44059213-44059260	GM19240	blood:	n/a	n/a
11	CTCF	chr19:44059254-44059803	HCT-116	colon:	n/a	n/a
12	RAD21	chr19:44059110-44059965	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr19:44059017-44059891	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44059054..44060074-chr19:44156198..44156967,3	K562	blood:
2	chr19:44059108..44059674-chr19:44098601..44099306,2	MCF-7	breast:
3	chr19:43937158..43937719-chr19:44059063..44059904,2	K562	blood:
4	chr19:44058980..44059977-chr19:44099035..44099807,2	MCF-7	breast:
5	chr19:44059035..44059991-chr19:44156189..44157100,4	MCF-7	breast:
6	chr19:44058393..44061505-chr19:44095706..44100146,4	MCF-7	breast:
7	chr19:44059185..44060976-chr19:44078373..44080974,2	K562	blood:

No data

Variant related genes	Relation type
XRCC1	TF binding region
ENSG00000269583	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000268361	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3213366	1.00[AFR][1000 genomes]
rs3213367	1.00[YRI][hapmap]
rs3213383	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
2	chr19:44040800-44060800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:44041800-44065200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:44043200-44064600	Weak transcription	NHDF-Ad	bronchial
5	chr19:44043600-44065800	Strong transcription	Adipose Nuclei	Adipose
6	chr19:44043800-44065800	Weak transcription	Fetal Heart	heart
7	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:44044600-44069000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44045200-44062800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:44047400-44066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44048200-44062000	Weak transcription	NH-A	brain
12	chr19:44048200-44067000	Weak transcription	HUVEC	blood vessel
13	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
14	chr19:44050400-44063000	Strong transcription	Thymus	Thymus
15	chr19:44052600-44060600	Strong transcription	Osteobl	bone
16	chr19:44052800-44060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:44052800-44068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44053000-44059400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:44053000-44059400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:44053000-44059400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:44053000-44059400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:44053000-44059400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:44053000-44060000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:44053000-44064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:44053000-44065600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:44053000-44066200	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:44053200-44064600	Weak transcription	K562	blood
28	chr19:44053400-44059400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:44053400-44061000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:44053400-44068800	Strong transcription	Fetal Intestine Small	intestine
31	chr19:44053400-44069400	Strong transcription	Fetal Stomach	stomach
32	chr19:44053600-44062400	Strong transcription	Dnd41	blood
33	chr19:44053600-44068600	Strong transcription	Fetal Intestine Large	intestine
34	chr19:44053800-44060600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:44053800-44060600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:44053800-44062600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44054000-44059600	Strong transcription	Right Ventricle	heart
38	chr19:44054000-44060000	Strong transcription	Brain Germinal Matrix	brain
39	chr19:44054000-44065600	Strong transcription	Placenta	Placenta
40	chr19:44054200-44060200	Strong transcription	Colon Smooth Muscle	Colon
41	chr19:44054200-44061200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:44054400-44060000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:44054400-44060200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:44054400-44060400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:44054400-44062400	Strong transcription	Primary T cells from cord blood	blood
46	chr19:44054400-44062400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:44054600-44059400	Strong transcription	NHLF	lung
48	chr19:44054600-44061200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr19:44054600-44062400	Strong transcription	HSMM	muscle
50	chr19:44055200-44061000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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