Variant report

Variant	rs6967483
Chromosome Location	chr7:100868126-100868127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100867526..100870116-chr7:100887548..100889599,2	K562	blood:
2	chr7:100859189..100864017-chr7:100867643..100870751,4	K562	blood:
3	chr7:100862517..100867092-chr7:100867176..100870862,5	K562	blood:
4	chr7:100867452..100869294-chr7:100872768..100875203,2	K562	blood:

Variant related genes	Relation type
ENSG00000106400	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10215699	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10230367	0.86[EUR][1000 genomes]
rs10241107	0.87[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252307	0.87[CEU][hapmap];0.95[YRI][hapmap];0.95[EUR][1000 genomes]
rs10254892	0.86[EUR][1000 genomes]
rs10255195	0.87[CEU][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes]
rs10257072	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs10260707	0.82[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260813	0.87[CEU][hapmap];0.94[YRI][hapmap];0.95[EUR][1000 genomes]
rs10270498	0.81[EUR][1000 genomes]
rs10273837	0.86[EUR][1000 genomes]
rs10487887	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs12333955	0.95[EUR][1000 genomes]
rs12334190	0.87[CEU][hapmap];0.94[YRI][hapmap];0.95[EUR][1000 genomes]
rs28535695	0.86[EUR][1000 genomes]
rs28582264	0.87[CEU][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes]
rs28629340	0.86[EUR][1000 genomes]
rs28673822	0.84[EUR][1000 genomes]
rs28689891	0.86[EUR][1000 genomes]
rs56749963	0.95[EUR][1000 genomes]
rs59554944	0.95[EUR][1000 genomes]
rs59937851	1.00[EUR][1000 genomes]
rs60536711	0.95[EUR][1000 genomes]
rs60719606	0.95[EUR][1000 genomes]
rs6946705	0.95[EUR][1000 genomes]
rs6946706	0.95[EUR][1000 genomes]
rs6947016	0.95[EUR][1000 genomes]
rs6947521	0.95[EUR][1000 genomes]
rs6947730	0.95[EUR][1000 genomes]
rs6957526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961873	0.95[EUR][1000 genomes]
rs6964812	1.00[EUR][1000 genomes]
rs6975417	0.87[CEU][hapmap];0.95[YRI][hapmap];0.95[EUR][1000 genomes]
rs6979122	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs6979308	0.95[EUR][1000 genomes]
rs6979710	0.95[EUR][1000 genomes]
rs6979867	0.95[EUR][1000 genomes]
rs73713820	0.86[EUR][1000 genomes]
rs73713821	0.86[EUR][1000 genomes]
rs7778271	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7808669	0.87[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
20	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs6967483	FIS1	Cis_1M	lymphoblastoid	RTeQTL
rs6967483	CLDN15	cis	Artery Tibial	GTEx
rs6967483	CLDN15	cis	Thyroid	GTEx
rs6967483	FIS1	cis	Artery Tibial	GTEx
rs6967483	FIS1	cis	Skin Sun Exposed Lower leg	GTEx
rs6967483	FIS1	cis	multi-tissue	Pritchard
rs6967483	FIS1	cis	Artery Aorta	GTEx
rs6967483	FIS1	cis	Esophagus Muscularis	GTEx
rs6967483	FIS1	cis	Adipose Subcutaneous	GTEx
rs6967483	CLDN15	cis	multi-tissue	Pritchard
rs6967483	FIS1	cis	Heart Left Ventricle	GTEx
rs6967483	FIS1	cis	Esophagus Mucosa	GTEx
rs6967483	FIS1	cis	Thyroid	GTEx
rs6967483	CLDN15	cis	Skin Sun Exposed Lower leg	GTEx
rs6967483	CLDN15	cis	Esophagus Muscularis	GTEx
rs6967483	FIS1	cis	lung	GTEx
rs6967483	FIS1	cis	Stomach	GTEx
rs6967483	CLDN15	Cis_1M	lymphoblastoid	RTeQTL
rs6967483	CLDN15	cis	Whole Blood	GTEx
rs6967483	FIS1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862200-100875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100862400-100868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:100862400-100874400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:100862400-100875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
6	chr7:100862800-100875400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:100863200-100870200	Weak transcription	Fetal Brain Male	brain
8	chr7:100863200-100872600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:100863200-100874800	Weak transcription	HUVEC	blood vessel
10	chr7:100863200-100875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:100863800-100872800	Strong transcription	Placenta	Placenta
12	chr7:100863800-100875600	Weak transcription	Right Atrium	heart
13	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
15	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
16	chr7:100864000-100873800	Weak transcription	Stomach Mucosa	stomach
17	chr7:100864200-100872800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:100864200-100875000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:100864400-100871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:100864400-100872600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:100864400-100873800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:100864400-100874200	Strong transcription	Fetal Intestine Small	intestine
23	chr7:100864400-100875000	Strong transcription	Fetal Stomach	stomach
24	chr7:100864600-100872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:100864600-100872600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:100864600-100873200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr7:100864600-100874000	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:100864600-100874000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr7:100864600-100874200	Strong transcription	Fetal Intestine Large	intestine
30	chr7:100864800-100869400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr7:100864800-100869600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:100864800-100869600	Strong transcription	Fetal Thymus	thymus
33	chr7:100864800-100870000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:100864800-100871000	Strong transcription	NHLF	lung
35	chr7:100864800-100872600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:100864800-100874400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:100865000-100868200	Strong transcription	Esophagus	oesophagus
38	chr7:100865000-100869200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr7:100865000-100869400	Strong transcription	A549	lung
40	chr7:100865000-100869600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr7:100865000-100870400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:100865000-100872000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:100865000-100872200	Strong transcription	Brain Anterior Caudate	brain
44	chr7:100865000-100872800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:100865000-100872800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:100865000-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:100865000-100872800	Strong transcription	Adipose Nuclei	Adipose
48	chr7:100865000-100873400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:100865000-100873800	Strong transcription	Lung	lung
50	chr7:100865000-100874600	Strong transcription	Primary T cells from cord blood	blood

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