Variant report

Variant	rs1035441
Chromosome Location	chr19:37353791-37353792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37342451..37344780-chr19:37351760..37354112,2	K562	blood:

Variant related genes	Relation type
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11084867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1148399	0.86[CHB][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap]
rs12151296	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12151333	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1227589	0.86[CHB][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs12980239	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673086	0.80[CHB][hapmap]
rs1726702	0.80[CHB][hapmap];0.83[YRI][hapmap]
rs2112140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488109	0.83[AFR][1000 genomes]
rs6510568	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8106752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8113447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826967	0.84[CHB][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
16	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
20	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1035441	AC012309.5	cis	Thyroid	GTEx
rs1035441	SUPT5H	cis	parietal	SCAN
rs1035441	PRR19	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37342800-37353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:37342800-37353800	Weak transcription	HUVEC	blood vessel
3	chr19:37342800-37355000	Weak transcription	Osteobl	bone
4	chr19:37342800-37356800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:37343400-37356000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:37343600-37358600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:37343600-37359000	ZNF genes & repeats	Fetal Lung	lung
8	chr19:37344400-37356000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr19:37344400-37369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
12	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:37345000-37356000	ZNF genes & repeats	Fetal Intestine Large	intestine
14	chr19:37345200-37353800	Weak transcription	Fetal Heart	heart
15	chr19:37346400-37356200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:37347000-37353800	Weak transcription	HSMM	muscle
19	chr19:37348600-37355600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr19:37348800-37356200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr19:37348800-37372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:37349400-37353800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:37349400-37353800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:37350600-37357400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:37350800-37355400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:37350800-37355400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr19:37350800-37356200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr19:37351000-37355200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr19:37351000-37356200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr19:37351200-37355200	Weak transcription	Pancreas	Pancrea
31	chr19:37351200-37355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:37351400-37355000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr19:37351400-37355200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr19:37351400-37356200	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr19:37351400-37356800	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:37351800-37353800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:37352000-37354000	ZNF genes & repeats	Fetal Stomach	stomach
38	chr19:37352000-37356200	ZNF genes & repeats	Small Intestine	intestine
39	chr19:37352000-37356400	ZNF genes & repeats	Aorta	Aorta
40	chr19:37352000-37356800	ZNF genes & repeats	Ovary	ovary
41	chr19:37352200-37353800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:37352400-37353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:37352400-37353800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:37352400-37353800	Weak transcription	Brain Angular Gyrus	brain
45	chr19:37352600-37354200	ZNF genes & repeats	Lung	lung
46	chr19:37352600-37356000	ZNF genes & repeats	Thymus	Thymus
47	chr19:37352800-37353800	Weak transcription	Right Ventricle	heart
48	chr19:37353000-37354800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:37353000-37356000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:37353000-37356200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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