Variant report

Variant	rs61679952
Chromosome Location	chr7:100179028-100179029
allele	C/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	POLR2A	chr7:100177235-100180963	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
2	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:

Variant related genes	Relation type
LRCH4	TF binding region
FBXO24	TF binding region
ENSG00000172354	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56854887	1.00[AMR][1000 genomes]
rs58742225	1.00[AMR][1000 genomes]
rs59009660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61385156	1.00[AMR][1000 genomes]
rs61423399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711111	1.00[AMR][1000 genomes]
rs73711116	1.00[AMR][1000 genomes]
rs73711117	1.00[AMR][1000 genomes]
rs73711124	1.00[AMR][1000 genomes]
rs73711138	1.00[AMR][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	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
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv888787	chr7:100161557-100179857	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
11	nsv888788	chr7:100161557-100186066	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
12	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
14	nsv607932	chr7:100172495-100182691	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
15	esv3380438	chr7:100176116-100180514	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100168000-100179800	Weak transcription	Right Atrium	heart
2	chr7:100168600-100179600	Strong transcription	NHLF	lung
3	chr7:100169600-100180000	Strong transcription	Fetal Intestine Small	intestine
4	chr7:100169600-100180200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:100169800-100179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:100169800-100180000	Strong transcription	Thymus	Thymus
7	chr7:100170000-100181200	Weak transcription	Hela-S3	cervix
8	chr7:100170200-100180200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:100170200-100180200	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:100170200-100180800	Strong transcription	Brain Germinal Matrix	brain
11	chr7:100170400-100179400	Strong transcription	Esophagus	oesophagus
12	chr7:100170400-100179600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:100170400-100179800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:100170400-100180200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:100170600-100179200	Strong transcription	Dnd41	blood
16	chr7:100170600-100179600	Strong transcription	Fetal Thymus	thymus
17	chr7:100170600-100180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:100170800-100179400	Strong transcription	Gastric	stomach
19	chr7:100170800-100179800	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:100170800-100179800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:100171000-100179600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100171000-100179800	Strong transcription	Adipose Nuclei	Adipose
23	chr7:100171000-100180200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:100171000-100180600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr7:100171200-100179800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:100171400-100180600	Strong transcription	Fetal Brain Female	brain
27	chr7:100171600-100179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:100171600-100179600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:100171600-100180000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:100171600-100180400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr7:100171600-100180400	Strong transcription	Brain Substantia Nigra	brain
32	chr7:100171600-100180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:100171600-100181400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:100171600-100181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:100171800-100179400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:100171800-100179800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr7:100171800-100180200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:100171800-100180200	Strong transcription	Left Ventricle	heart
39	chr7:100171800-100180400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:100172000-100179400	Strong transcription	Spleen	Spleen
41	chr7:100172000-100180000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:100172000-100180400	Strong transcription	Brain Anterior Caudate	brain
43	chr7:100172200-100180200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:100172200-100180800	Strong transcription	Brain Hippocampus Middle	brain
45	chr7:100172400-100179600	Strong transcription	Fetal Intestine Large	intestine
46	chr7:100172400-100180200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:100172600-100179600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:100172600-100179800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:100172600-100180000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:100172600-100180000	Strong transcription	Ovary	ovary

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