Variant report

Variant	rs1935817
Chromosome Location	chr6:119397860-119397861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119384109..119386949-chr6:119396336..119398560,2	K562	blood:
2	chr6:119254512..119256806-chr6:119396471..119398017,2	K562	blood:
3	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
4	chr6:119357800..119360745-chr6:119397203..119399369,2	K562	blood:

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2357030	1.00[YRI][hapmap]
rs2884078	0.81[ASW][hapmap];1.00[YRI][hapmap]
rs4946391	0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9374779	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401118	0.87[ASW][hapmap];0.91[YRI][hapmap]
rs9401126	0.86[AMR][1000 genomes];0.84[EUR][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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases
2	nsv528632	chr6:119380885-119397860	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1935817	FAM184A	cis	parietal	SCAN
rs1935817	FAM184A	cis	Nerve Tibial	GTEx
rs1935817	MCM9	cis	parietal	SCAN
rs1935817	MCM9	cis	cerebellum	SCAN
rs1935817	FAM26E	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119393600-119398200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:119393600-119398400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:119395000-119399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:119396200-119398800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119396800-119398000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:119396800-119398400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:119397200-119398000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:119397400-119398000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:119397400-119398000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:119397400-119398000	Active TSS	Brain Anterior Caudate	brain
11	chr6:119397400-119398000	Enhancers	Fetal Brain Female	brain
12	chr6:119397400-119398400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:119397400-119398400	Enhancers	HepG2	liver
14	chr6:119397400-119398600	Enhancers	Brain Germinal Matrix	brain
15	chr6:119397400-119398600	Active TSS	Fetal Lung	lung
16	chr6:119397400-119399200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:119397400-119399200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr6:119397400-119399200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr6:119397400-119399400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:119397400-119400800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:119397600-119398000	Weak transcription	Fetal Brain Male	brain
22	chr6:119397600-119398400	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:119397600-119398800	Active TSS	Primary T cells fromperipheralblood	blood
24	chr6:119397600-119398800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:119397600-119399000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:119397800-119398000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:119397800-119398200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr6:119397800-119398200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr6:119397800-119398200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr6:119397800-119398200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:119397800-119398200	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:119397800-119398400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:119397800-119398600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:119397800-119399200	Flanking Active TSS	K562	blood

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