Variant report

Variant	rs60478121
Chromosome Location	chr6:31038612-31038613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:
2	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
3	chr6:30581752..30584952-chr6:31036204..31040339,4	K562	blood:
4	chr6:30581752..30584952-chr6:31036534..31040339,3	K562	blood:
5	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
6	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:
7	chr6:31026121..31026747-chr6:31038216..31039119,3	MCF-7	breast:
8	chr6:30883157..30884656-chr6:31038088..31039166,6	MCF-7	breast:
9	chr6:30850647..30851535-chr6:31038324..31038929,2	MCF-7	breast:
10	chr6:30796728..30798385-chr6:31036794..31038711,2	MCF-7	breast:
11	chr6:30845624..30847125-chr6:31037029..31038938,2	MCF-7	breast:
12	chr6:30796286..30797094-chr6:31038583..31039101,2	MCF-7	breast:
13	chr6:31037450..31039191-chr6:31044569..31047052,2	K562	blood:
14	chr6:30881624..30883657-chr6:31036918..31039973,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137411	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17196625	0.92[EUR][1000 genomes]
rs2517544	0.87[ASN][1000 genomes]
rs73388867	0.96[EUR][1000 genomes]
rs73403451	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884130	chr6:31014305-31038756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
12	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
13	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
14	nsv884134	chr6:31028345-31048263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv884135	chr6:31034264-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv884136	chr6:31036783-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31033800-31040200	Weak transcription	Fetal Intestine Small	intestine
3	chr6:31034200-31040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:31034400-31040200	Weak transcription	HSMMtube	muscle
5	chr6:31035000-31040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:31036000-31040000	Weak transcription	HSMM	muscle
7	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:31036200-31039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:31036800-31039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:31036800-31039000	Enhancers	Brain Hippocampus Middle	brain
11	chr6:31037000-31047400	Weak transcription	Right Atrium	heart
12	chr6:31037600-31039000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:31038000-31039400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:31038000-31040600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:31038200-31038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:31038200-31038800	Enhancers	Brain Substantia Nigra	brain
17	chr6:31038200-31039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:31038200-31039000	Enhancers	Brain Anterior Caudate	brain
19	chr6:31038200-31039000	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:31038200-31039000	Enhancers	Fetal Brain Male	brain
21	chr6:31038200-31039000	Enhancers	Fetal Kidney	kidney
22	chr6:31038200-31039000	Enhancers	A549	lung
23	chr6:31038200-31039000	Enhancers	HMEC	breast
24	chr6:31038200-31039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:31038200-31039200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:31038200-31039400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:31038200-31039400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:31038200-31039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:31038400-31038800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:31038400-31038800	Enhancers	Fetal Stomach	stomach
31	chr6:31038400-31038800	Enhancers	Stomach Mucosa	stomach
32	chr6:31038400-31038800	Enhancers	NHDF-Ad	bronchial
33	chr6:31038400-31038800	Enhancers	Osteobl	bone
34	chr6:31038400-31039000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:31038400-31039000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:31038400-31039000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:31038400-31039000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:31038400-31039000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:31038400-31039000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:31038400-31039000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:31038400-31039000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:31038400-31039000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:31038400-31039000	Enhancers	Esophagus	oesophagus
44	chr6:31038400-31039000	Enhancers	NH-A	brain
45	chr6:31038400-31039000	Enhancers	NHEK	skin
46	chr6:31038400-31039000	Enhancers	NHLF	lung
47	chr6:31038400-31039200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:31038400-31039200	Enhancers	Fetal Lung	lung
49	chr6:31038400-31039200	Enhancers	Hela-S3	cervix
50	chr6:31038400-31040400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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