Variant report

Variant	rs6461248
Chromosome Location	chr7:16438357-16438358
allele	A/G
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	chr7:16435726..16438390-chr7:16620305..16622722,2	K562	blood:
3	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
4	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
5	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
6	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10232515	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240752	1.00[CEU][hapmap];0.96[GIH][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10253784	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10257504	0.81[CEU][hapmap]
rs10259225	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10267886	0.96[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10272029	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950618	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950619	0.81[CEU][hapmap]
rs12397698	0.81[EUR][1000 genomes]
rs13234570	0.89[ASN][1000 genomes]
rs17169465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2178597	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2389634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389635	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36199445	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3903222	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4351322	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60155393	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6461250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461251	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461252	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944820	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6948660	0.81[CEU][hapmap]
rs6949112	0.81[CEU][hapmap]
rs6949292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6955398	0.81[CEU][hapmap]
rs6958802	0.81[CEU][hapmap]
rs6966496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6976548	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782304	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783283	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7810190	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810822	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7811104	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9655136	0.96[CEU][hapmap];0.89[GIH][hapmap]
rs9886352	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][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	nsv523408	chr7:16413481-16438357	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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
10	esv3430641	chr7:16435227-16441525	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3340751	chr7:16435327-16441325	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv517363	chr7:16437810-16441865	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3397678	chr7:16438277-16440775	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16432600-16439600	Weak transcription	Ovary	ovary
2	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
3	chr7:16435200-16442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16435800-16439600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:16435800-16440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:16435800-16444400	ZNF genes & repeats	K562	blood
7	chr7:16436000-16440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:16436200-16440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr7:16436200-16440400	ZNF genes & repeats	Fetal Lung	lung
10	chr7:16436200-16443600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr7:16436400-16440000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr7:16436400-16440000	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr7:16436400-16440200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:16436400-16440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr7:16436400-16440400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr7:16436400-16440400	ZNF genes & repeats	Fetal Brain Male	brain
17	chr7:16436400-16440400	ZNF genes & repeats	Fetal Heart	heart
18	chr7:16436400-16440400	ZNF genes & repeats	Fetal Kidney	kidney
19	chr7:16436400-16440600	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr7:16436600-16439600	ZNF genes & repeats	Gastric	stomach
21	chr7:16436600-16440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr7:16436600-16440000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr7:16436600-16440000	ZNF genes & repeats	Dnd41	blood
24	chr7:16436600-16440200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr7:16436600-16440400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:16436600-16440400	ZNF genes & repeats	Esophagus	oesophagus
27	chr7:16436600-16440400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr7:16436800-16438600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr7:16436800-16440000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:16436800-16440200	ZNF genes & repeats	Pancreas	Pancrea
31	chr7:16436800-16440200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr7:16436800-16440400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:16436800-16440600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:16437000-16439200	Weak transcription	Spleen	Spleen
35	chr7:16437000-16440400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:16437000-16442600	Weak transcription	Right Ventricle	heart
37	chr7:16437200-16440400	ZNF genes & repeats	HSMM	muscle
38	chr7:16437400-16440400	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr7:16437600-16439000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:16437600-16439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:16437600-16440000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
42	chr7:16438000-16438400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr7:16438000-16439600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr7:16438200-16439400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:16438200-16440000	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr7:16438200-16440400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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