Variant report

Variant	rs10419957
Chromosome Location	chr19:44093909-44093910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44093865-44094213	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr19:44093861-44094402	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:44093755-44094225	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:44093796-44094286	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:44092859-44095793	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:44093810-44094276	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44091165..44093926-chr19:44279180..44281985,2	K562	blood:
3	chr19:44093767..44095435-chr19:44097697..44100110,2	MCF-7	breast:

Variant related genes	Relation type
IRGQ	TF binding region
ENSG00000073050	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000104783	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10403862	1.00[AMR][1000 genomes]
rs10404317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404922	1.00[CHB][hapmap]
rs10408803	1.00[AMR][1000 genomes]
rs10410931	1.00[AMR][1000 genomes]
rs10424087	1.00[AMR][1000 genomes]
rs10424446	1.00[AMR][1000 genomes]
rs10424731	0.86[AFR][1000 genomes]
rs2307184	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs25474	1.00[CHB][hapmap]
rs28516671	1.00[AFR][1000 genomes]
rs3213238	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213298	0.86[AFR][1000 genomes]
rs3213304	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213320	1.00[AMR][1000 genomes]
rs3213324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44079800-44098200	Weak transcription	Small Intestine	intestine
2	chr19:44080600-44095600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:44084600-44094000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:44084600-44096800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:44084600-44098200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:44084800-44095400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr19:44084800-44097400	Weak transcription	NH-A	brain
8	chr19:44085000-44095600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:44085000-44095600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:44085400-44094600	Weak transcription	Left Ventricle	heart
11	chr19:44085600-44094200	Weak transcription	Right Ventricle	heart
12	chr19:44085600-44095200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:44085600-44096200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44085600-44096200	Weak transcription	Aorta	Aorta
15	chr19:44085600-44098800	Weak transcription	Psoas Muscle	Psoas
16	chr19:44085600-44099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:44085800-44094200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:44085800-44094200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:44085800-44094600	Weak transcription	Esophagus	oesophagus
20	chr19:44085800-44094600	Weak transcription	Gastric	stomach
21	chr19:44085800-44095400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:44085800-44096200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:44085800-44096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:44085800-44096600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:44086000-44094200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:44086000-44094600	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:44086000-44094800	Weak transcription	Brain Substantia Nigra	brain
28	chr19:44086000-44095200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:44086000-44098000	Weak transcription	NHDF-Ad	bronchial
30	chr19:44086200-44094000	Weak transcription	Colonic Mucosa	Colon
31	chr19:44086200-44094600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:44086200-44098000	Weak transcription	Fetal Heart	heart
33	chr19:44086200-44099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:44086400-44098400	Weak transcription	K562	blood
35	chr19:44086800-44095400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:44087800-44097800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44088200-44097800	Strong transcription	Fetal Stomach	stomach
38	chr19:44088600-44095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:44088800-44096400	Weak transcription	Dnd41	blood
40	chr19:44089000-44097800	Weak transcription	Hela-S3	cervix
41	chr19:44089000-44098200	Weak transcription	Stomach Mucosa	stomach
42	chr19:44089200-44097400	Strong transcription	Fetal Intestine Small	intestine
43	chr19:44089400-44094200	Weak transcription	HepG2	liver
44	chr19:44089600-44097200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:44089800-44097400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:44089800-44097800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:44090000-44098800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:44090800-44096200	Weak transcription	Fetal Brain Male	brain
49	chr19:44091000-44094000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:44091000-44096000	Weak transcription	Ovary	ovary

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