Variant report

Variant	rs6651109
Chromosome Location	chr7:100154079-100154080
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100071827..100074750-chr7:100153997..100156937,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17855473	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2075668	0.95[AFR][1000 genomes]
rs66639430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405401	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7787211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7793561	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised 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	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100144200-100167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100145200-100167400	Weak transcription	HSMM	muscle
3	chr7:100145600-100157000	Weak transcription	Fetal Brain Male	brain
4	chr7:100145800-100157600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:100146200-100156200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:100146200-100165000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:100146400-100154600	Strong transcription	Fetal Muscle Leg	muscle
8	chr7:100146400-100155200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100146400-100157400	Strong transcription	Fetal Stomach	stomach
10	chr7:100146600-100155800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:100146600-100167200	Weak transcription	Fetal Heart	heart
12	chr7:100146800-100154600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:100146800-100154600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:100147000-100157200	Weak transcription	Stomach Mucosa	stomach
15	chr7:100147000-100157400	Weak transcription	Right Atrium	heart
16	chr7:100147400-100154400	Strong transcription	Brain Anterior Caudate	brain
17	chr7:100147400-100154800	Strong transcription	Left Ventricle	heart
18	chr7:100147600-100155800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:100148000-100154400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:100148000-100154400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:100148000-100156400	Strong transcription	Ovary	ovary
22	chr7:100148400-100154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:100148600-100154600	Strong transcription	GM12878-XiMat	blood
24	chr7:100148600-100157200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:100148600-100160400	Weak transcription	Fetal Lung	lung
26	chr7:100148600-100161800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:100148600-100165000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:100148800-100156800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:100149000-100154800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:100149200-100157000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:100149600-100154600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr7:100149600-100154600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:100149800-100154400	Strong transcription	Fetal Thymus	thymus
34	chr7:100149800-100154400	Strong transcription	Lung	lung
35	chr7:100149800-100154600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:100149800-100157000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:100150000-100154400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:100150000-100154400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:100150000-100154400	Strong transcription	Fetal Brain Female	brain
40	chr7:100150000-100154400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:100150000-100154400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr7:100150000-100154400	Strong transcription	Dnd41	blood
43	chr7:100150000-100154600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:100150000-100154600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:100150000-100154600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:100150000-100154600	Strong transcription	Spleen	Spleen
47	chr7:100150000-100155400	Strong transcription	Thymus	Thymus
48	chr7:100150000-100155800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:100150000-100156000	Strong transcription	Primary T cells from cord blood	blood
50	chr7:100150000-100157200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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