Variant report

Variant	rs17169463
Chromosome Location	chr7:16439910-16439911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
2	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
3	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:
4	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
5	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215782	1.00[AMR][1000 genomes]
rs10261127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265437	0.86[AFR][1000 genomes]
rs10268957	1.00[AMR][1000 genomes]
rs10280186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682023	1.00[AMR][1000 genomes]
rs73682105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682121	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv508447	chr7:16360614-16446053	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1028556	chr7:16404615-16440024	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3430641	chr7:16435227-16441525	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3340751	chr7:16435327-16441325	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv517363	chr7:16437810-16441865	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3397678	chr7:16438277-16440775	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3440522	chr7:16438977-16441775	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16435200-16442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:16435800-16440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:16435800-16444400	ZNF genes & repeats	K562	blood
5	chr7:16436000-16440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:16436200-16440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:16436200-16440400	ZNF genes & repeats	Fetal Lung	lung
8	chr7:16436200-16443600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr7:16436400-16440000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr7:16436400-16440000	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr7:16436400-16440200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:16436400-16440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr7:16436400-16440400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr7:16436400-16440400	ZNF genes & repeats	Fetal Brain Male	brain
15	chr7:16436400-16440400	ZNF genes & repeats	Fetal Heart	heart
16	chr7:16436400-16440400	ZNF genes & repeats	Fetal Kidney	kidney
17	chr7:16436400-16440600	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr7:16436600-16440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr7:16436600-16440000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr7:16436600-16440000	ZNF genes & repeats	Dnd41	blood
21	chr7:16436600-16440200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr7:16436600-16440400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:16436600-16440400	ZNF genes & repeats	Esophagus	oesophagus
24	chr7:16436600-16440400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr7:16436800-16440000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:16436800-16440200	ZNF genes & repeats	Pancreas	Pancrea
27	chr7:16436800-16440200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr7:16436800-16440400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:16436800-16440600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:16437000-16440400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:16437000-16442600	Weak transcription	Right Ventricle	heart
32	chr7:16437200-16440400	ZNF genes & repeats	HSMM	muscle
33	chr7:16437400-16440400	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr7:16437600-16440000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
35	chr7:16438200-16440000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr7:16438200-16440400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
37	chr7:16438400-16440000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:16438800-16440600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr7:16439400-16440000	ZNF genes & repeats	Liver	Liver
40	chr7:16439400-16440000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr7:16439400-16440200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr7:16439400-16440600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr7:16439600-16440000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr7:16439600-16440000	ZNF genes & repeats	Osteobl	bone
45	chr7:16439600-16440400	Strong transcription	Fetal Stomach	stomach
46	chr7:16439600-16440400	ZNF genes & repeats	HSMMtube	muscle
47	chr7:16439600-16441200	Strong transcription	Ovary	ovary
48	chr7:16439800-16440400	Genic enhancers	Gastric	stomach
49	chr7:16439800-16442400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:16439800-16442400	Weak transcription	Rectal Mucosa Donor 29	rectum

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