Variant report

Variant	rs10404317
Chromosome Location	chr19:44068958-44068959
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44068557..44070681-chr19:44078939..44080938,2	K562	blood:
2	chr19:44067153..44069901-chr19:44090568..44094410,3	MCF-7	breast:
3	chr19:44067662..44069397-chr19:44123055..44125444,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131116	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000167378	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10403862	1.00[AMR][1000 genomes]
rs10408803	1.00[AMR][1000 genomes]
rs10410931	1.00[AMR][1000 genomes]
rs10419662	0.86[AFR][1000 genomes]
rs10419957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424087	1.00[AMR][1000 genomes]
rs10424446	1.00[AMR][1000 genomes]
rs10424731	1.00[AFR][1000 genomes]
rs10424743	0.86[AFR][1000 genomes]
rs28516671	0.86[AFR][1000 genomes]
rs3213238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213298	1.00[AFR][1000 genomes]
rs3213304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213320	1.00[AMR][1000 genomes]
rs3213324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:122 , 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	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44044600-44069000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
5	chr19:44053400-44069400	Strong transcription	Fetal Stomach	stomach
6	chr19:44057600-44071200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
8	chr19:44058400-44071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:44059000-44076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:44059800-44078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:44061800-44069000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:44062600-44076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:44063400-44076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:44063600-44069200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:44063800-44069200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:44064800-44069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:44065200-44078600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:44065400-44069400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:44065400-44069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:44065400-44078600	Weak transcription	Ovary	ovary
23	chr19:44065400-44078800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:44065400-44078800	Weak transcription	Aorta	Aorta
25	chr19:44065800-44078600	Weak transcription	HSMM	muscle
26	chr19:44066000-44078600	Weak transcription	K562	blood
27	chr19:44066200-44078800	Weak transcription	Pancreas	Pancrea
28	chr19:44066600-44076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:44066600-44078800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:44066800-44074000	Weak transcription	Stomach Mucosa	stomach
31	chr19:44067000-44069200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:44067000-44069800	Enhancers	Primary B cells from peripheral blood	blood
33	chr19:44067000-44078600	Weak transcription	Gastric	stomach
34	chr19:44067200-44069400	Enhancers	Thymus	Thymus
35	chr19:44067200-44069600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:44067200-44075600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:44067200-44076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:44067200-44076200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:44067200-44078600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:44067200-44078600	Weak transcription	Fetal Kidney	kidney
41	chr19:44067400-44069000	Weak transcription	Brain Germinal Matrix	brain
42	chr19:44067400-44069000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:44067400-44069400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr19:44067400-44069800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:44067400-44070000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:44067400-44074000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:44067400-44074000	Weak transcription	NHEK	skin
48	chr19:44067400-44074800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:44067400-44075000	Weak transcription	Placenta	Placenta
50	chr19:44067400-44076000	Weak transcription	Brain Cingulate Gyrus	brain

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