Variant report

Variant	rs8179181
Chromosome Location	chr19:41838206-41838207
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41837922..41839964-chr19:41843309..41846016,2	K562	blood:
2	chr19:41836092..41838947-chr19:41857374..41860148,3	MCF-7	breast:
3	chr19:41833038..41835641-chr19:41836593..41839563,3	MCF-7	breast:
4	chr19:41833143..41834852-chr19:41837091..41839256,2	MCF-7	breast:
5	chr19:41828482..41836150-chr19:41836490..41842395,12	K562	blood:

Variant related genes	Relation type
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10408019	1.00[CHB][hapmap]
rs11466353	1.00[AFR][1000 genomes]
rs12983789	1.00[CHB][hapmap]
rs1529717	1.00[CHB][hapmap]
rs17657660	1.00[CHB][hapmap]
rs17849624	1.00[YRI][hapmap]
rs4803464	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8179181	HNRNPUL1	cis	lymphoblastoid	seeQTL
rs8179181	TMEM207	trans	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41818600-41854800	Strong transcription	Dnd41	blood
2	chr19:41832400-41856000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:41833400-41846400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41834200-41838600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:41834200-41838800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:41834200-41839600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr19:41834200-41839800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:41834200-41842000	Genic enhancers	Placenta	Placenta
9	chr19:41834200-41842600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:41834200-41856600	Weak transcription	Brain Anterior Caudate	brain
11	chr19:41834200-41856800	Weak transcription	Fetal Kidney	kidney
12	chr19:41834400-41838600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:41834400-41854800	Weak transcription	Small Intestine	intestine
14	chr19:41834600-41842600	Strong transcription	Thymus	Thymus
15	chr19:41834800-41839000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:41834800-41840000	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:41834800-41841400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:41834800-41845200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:41834800-41845600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:41834800-41847600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:41834800-41849400	Weak transcription	Fetal Lung	lung
22	chr19:41834800-41855600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:41834800-41856800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:41834800-41856800	Weak transcription	Brain Substantia Nigra	brain
25	chr19:41835000-41838600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr19:41835000-41839000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:41835000-41840400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:41835000-41841600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:41835000-41843400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:41835000-41845200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:41835000-41845600	Weak transcription	HSMM	muscle
32	chr19:41835000-41847600	Weak transcription	Gastric	stomach
33	chr19:41835000-41847800	Weak transcription	Pancreas	Pancrea
34	chr19:41835000-41854400	Strong transcription	Fetal Stomach	stomach
35	chr19:41835000-41856600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:41835000-41856800	Weak transcription	Brain Angular Gyrus	brain
37	chr19:41835200-41838600	Weak transcription	NHDF-Ad	bronchial
38	chr19:41835200-41843600	Weak transcription	NH-A	brain
39	chr19:41835200-41846600	Weak transcription	HMEC	breast
40	chr19:41835200-41849400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:41835400-41840000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr19:41835400-41841200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:41835400-41845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:41835400-41847600	Weak transcription	Colonic Mucosa	Colon
45	chr19:41835400-41847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:41835600-41856000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:41835800-41838400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:41835800-41839000	Strong transcription	Spleen	Spleen
49	chr19:41835800-41840400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:41836000-41838400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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