Variant report

Variant	rs3817622
Chromosome Location	chr19:36237227-36237228
allele	A/T
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	MXI1	chr19:36235293-36237237	IMR90	lung:	n/a	n/a
2	MAZ	chr19:36235328-36237351	IMR90	lung:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
3	GABPA	chr19:36235561-36237261	A549	lung:	n/a	chr19:36236473-36236482 chr19:36236473-36236484 chr19:36236411-36236422 chr19:36236470-36236484 chr19:36236413-36236422

No.	Distal block	Cell Line	Cell type
1	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
2	chr19:36223134..36225733-chr19:36234939..36237543,2	MCF-7	breast:
3	chr19:35759096..35761188-chr19:36236088..36238876,2	MCF-7	breast:
4	chr19:35643125..35645834-chr19:36235394..36237704,2	K562	blood:
5	chr19:36034766..36037168-chr19:36234979..36237516,2	MCF-7	breast:
6	chr19:36235922..36238148-chr19:36359346..36361404,2	MCF-7	breast:

Variant related genes	Relation type
U2AF1L4	TF binding region
ENSG00000267120	TF binding region
IGFLR1	TF binding region
LIN37	TF binding region
ENSG00000272333	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11546662	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11546665	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16970649	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776834	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227278	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2234360	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2234375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267585	0.84[EUR][1000 genomes]
rs2267586	0.85[EUR][1000 genomes]
rs2285420	0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs231217	0.83[AMR][1000 genomes]
rs2871893	0.82[EUR][1000 genomes]
rs2871894	0.82[EUR][1000 genomes]
rs34562867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297478	0.83[EUR][1000 genomes]
rs3893069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580318	0.84[EUR][1000 genomes]
rs4992668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55955981	0.83[EUR][1000 genomes]
rs56237993	0.80[EUR][1000 genomes]
rs56813196	0.82[EUR][1000 genomes]
rs56849855	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57180990	0.84[EUR][1000 genomes]
rs58142685	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58255615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58496446	0.84[EUR][1000 genomes]
rs58952294	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61254015	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61351824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375471	0.84[EUR][1000 genomes]
rs73590543	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590544	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73590559	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590561	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73590564	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73590568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590576	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590585	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592448	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73592461	0.90[EUR][1000 genomes]
rs73592484	0.83[EUR][1000 genomes]
rs73599271	0.83[EUR][1000 genomes]
rs73599272	0.81[EUR][1000 genomes]
rs73599274	0.81[EUR][1000 genomes]
rs73599279	0.82[EUR][1000 genomes]
rs73599281	0.82[EUR][1000 genomes]
rs73599286	0.84[EUR][1000 genomes]
rs73599289	0.84[EUR][1000 genomes]
rs73600880	0.84[EUR][1000 genomes]
rs73600881	0.84[EUR][1000 genomes]
rs73600885	0.85[EUR][1000 genomes]
rs73600892	0.82[EUR][1000 genomes]
rs73600893	0.84[EUR][1000 genomes]
rs73600899	0.80[EUR][1000 genomes]
rs73602803	0.81[EUR][1000 genomes]
rs73602804	0.81[EUR][1000 genomes]
rs73602806	0.81[EUR][1000 genomes]
rs73602823	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73602827	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73602832	0.86[EUR][1000 genomes]
rs73602833	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36235000-36237800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:36235200-36237400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:36235200-36237400	Active TSS	NHDF-Ad	bronchial
4	chr19:36235200-36237600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:36235200-36238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36235400-36237600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:36235600-36237400	Active TSS	Psoas Muscle	Psoas
8	chr19:36235800-36237400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:36235800-36237400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:36236600-36237400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:36236600-36237400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr19:36236600-36237400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:36236600-36237400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:36236600-36237400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr19:36236600-36237400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr19:36236600-36237400	Flanking Active TSS	Fetal Stomach	stomach
17	chr19:36236600-36237600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:36236600-36237600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:36236600-36237600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:36236600-36237600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr19:36236600-36237600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:36236600-36237600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:36236600-36237600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:36236800-36237400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:36236800-36237400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr19:36236800-36237400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr19:36236800-36237400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:36236800-36237400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr19:36236800-36237400	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr19:36236800-36237400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr19:36236800-36237400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr19:36236800-36237400	Flanking Active TSS	Fetal Heart	heart
33	chr19:36236800-36237400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
34	chr19:36236800-36237400	Flanking Active TSS	Fetal Thymus	thymus
35	chr19:36236800-36237400	Flanking Active TSS	Osteobl	bone
36	chr19:36236800-36237600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:36236800-36237600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36236800-36237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:36236800-36237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:36236800-36237600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:36236800-36237600	Flanking Active TSS	Colonic Mucosa	Colon
42	chr19:36236800-36237600	Flanking Active TSS	Fetal Brain Female	brain
43	chr19:36236800-36237600	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr19:36236800-36237600	Flanking Active TSS	Placenta	Placenta
45	chr19:36236800-36237600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:36236800-36237600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:36236800-36237600	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr19:36236800-36237600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr19:36236800-36237600	Flanking Active TSS	HUVEC	blood vessel
50	chr19:36236800-36237800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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