Variant report

Variant	rs16995852
Chromosome Location	chr19:19112765-19112766
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	chr19:19112502-19112801	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19111292..19114373-chr19:19114912..19119254,5	K562	blood:
2	chr19:19051300..19054112-chr19:19111222..19113241,2	MCF-7	breast:

Variant related genes	Relation type
SUGP2	TF binding region
ENSG00000064607	Chromatin interaction
ENSG00000051128	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1004079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421019	1.00[JPT][hapmap]
rs11729	1.00[JPT][hapmap]
rs16994664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16995906	0.96[ASN][1000 genomes]
rs17373432	0.92[AFR][1000 genomes]
rs2313736	0.90[AFR][1000 genomes]
rs34540303	0.92[AFR][1000 genomes]
rs4808179	0.90[AFR][1000 genomes]
rs4808923	1.00[JPT][hapmap]
rs59094007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249432	0.92[AFR][1000 genomes]
rs8099994	0.96[ASN][1000 genomes]
rs8102294	0.88[EUR][1000 genomes];1.00[ASN][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19100200-19117400	Strong transcription	Fetal Intestine Small	intestine
2	chr19:19100600-19122800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:19101000-19114000	Weak transcription	Small Intestine	intestine
4	chr19:19101000-19125600	Strong transcription	Thymus	Thymus
5	chr19:19101000-19133000	Strong transcription	Fetal Thymus	thymus
6	chr19:19101200-19126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:19101200-19130400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr19:19101400-19113000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:19101400-19130400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr19:19101400-19142000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:19101600-19130400	Strong transcription	Primary T cells from cord blood	blood
13	chr19:19101600-19130400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:19102000-19113000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:19102000-19130200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:19102000-19132000	Strong transcription	Dnd41	blood
17	chr19:19102600-19122600	Weak transcription	Fetal Heart	heart
18	chr19:19103200-19130200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:19103600-19123600	Strong transcription	HepG2	liver
20	chr19:19104000-19114000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:19106800-19119200	Weak transcription	Stomach Mucosa	stomach
22	chr19:19106800-19143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr19:19107000-19119000	Weak transcription	Fetal Kidney	kidney
24	chr19:19107200-19130200	Strong transcription	Brain Germinal Matrix	brain
25	chr19:19107200-19142600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:19107400-19125800	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:19107600-19127200	Strong transcription	Fetal Intestine Large	intestine
28	chr19:19107600-19130200	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:19107600-19142600	Strong transcription	Fetal Stomach	stomach
30	chr19:19107800-19113000	Strong transcription	Primary B cells from cord blood	blood
31	chr19:19107800-19130200	Strong transcription	Placenta	Placenta
32	chr19:19107800-19130400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:19107800-19130400	Strong transcription	Fetal Brain Female	brain
34	chr19:19108000-19142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:19108000-19142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:19108200-19116400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:19108200-19130400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:19108200-19142600	Weak transcription	Right Atrium	heart
39	chr19:19108600-19113000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:19108600-19119600	Strong transcription	NHDF-Ad	bronchial
41	chr19:19108600-19130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:19108600-19142200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:19108600-19142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:19108800-19116200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr19:19108800-19116200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr19:19108800-19123800	Strong transcription	NHEK	skin
47	chr19:19108800-19127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:19108800-19130400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:19109000-19113000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:19109000-19130400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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